| PEX19 |
- |
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Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins …
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| PPP1R3D |
- |
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Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging …
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| TBK1 |
- |
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The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the …
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| ZNF654 |
- |
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-
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| ZNF237 |
- |
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-
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| - |
- |
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-
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| - |
- |
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-
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| ZNF554 |
- |
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-
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| GSG1 |
- |
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-
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| - |
- |
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-
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| PRDX4 |
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The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized …
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| RIPK4 |
- |
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The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein …
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| C14orf159 |
- |
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-
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| BPY2IP1 |
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-
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| PDZRN4 |
- |
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-
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| ZNF594 |
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-
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| OTX2 |
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This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription …
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| DPP6 |
- |
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The protein encoded by this gene is the human ortholog of bovine and rat dipeptidylpeptidase VI. They are transmembrane proteins …
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| ALS2CR10 |
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-
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| BGLAP |
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Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium.
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| FPR1 |
- |
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High affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation …
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| C10orf47 |
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-
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| PRPF3 |
- |
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The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear …
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| TDRD5 |
- |
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-
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| DNAJC10 |
- |
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-
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| ANKRD21 |
- |
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-
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| GCK |
- |
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Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of this gene results in …
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| CTSO |
- |
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The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme …
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| FAU |
- |
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This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a …
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| - |
- |
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-
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| NDST3 |
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-
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| - |
- |
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-
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| FAM46B |
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-
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| ATF7 |
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Binds the cAMP response element (CRE) (consensus: 5'- GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters.
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| C20orf51 |
- |
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-
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| ARID5A |
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-
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| SIRT5 |
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This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the …
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| - |
- |
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-
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| MUC19 |
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-
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View
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| - |
- |
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-
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| LPHN1 |
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This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell …
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| ZFP37 |
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May be involved in transcriptional regulation.
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| UBE2G1 |
- |
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The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination …
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| C21orf23 |
- |
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-
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| C1orf62 |
- |
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-
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| - |
- |
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-
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| CTH |
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This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis …
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| BTNL2 |
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-
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| C15orf23 |
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-
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| SDF4 |
- |
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May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.
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| RPL11 |
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Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
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| SARDH |
- |
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-
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| - |
- |
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The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and …
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| MDM2 |
- |
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This gene is a target gene of the transcription factor tumor protein p53. The encoded protein is a nuclear phosphoprotein …
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| C21orf15 |
- |
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-
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| PARP15 |
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-
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| ADH1C |
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This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of …
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| GPT |
- |
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Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles.
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| SHFM1 |
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The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It …
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| BMP3 |
- |
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BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein induces bone formation.
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| AGC1 |
- |
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Aggrecan 1 is a member of the aggrecan/versican proteoglycan family. As an integral part of the extracellular matrix in cartilagenous …
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| PPP1R12B |
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Myosin light chain phosphatase (MLCP) consists of three subunits- catalytic subunit, large subunit/myosin binding subunit (MBS) and small subunit (sm-M20). …
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| C10orf63 |
- |
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-
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| CYP4F12 |
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This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
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| ZNF233 |
- |
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-
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View
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| C21orf29 |
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-
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| - |
- |
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Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in …
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| SERPINB10 |
- |
|
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May play a role in the regulation of protease activities during hematopoiesis.
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| ZFPM1 |
- |
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Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation …
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| NFATC2IP |
- |
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-
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| IFIT3 |
- |
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-
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| IGF1R |
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This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I …
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| SEMA4F |
- |
|
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Has growth cone collapse activity against retinal ganglion-cell axons (By similarity).
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View
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| USP19 |
- |
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Involved in the ubiquitin-dependent proteolytic pathway in conjunction with the 26S proteasome (By similarity).
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View
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| C12orf5 |
- |
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-
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| ISGF3G |
- |
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Transcription regulatory factor that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell …
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View
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| - |
- |
|
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-
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| TIMELESS |
- |
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May play an important role in epithelial cell morphogenesis and formation of branching tubules (By similarity).
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View
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| RAB25 |
- |
|
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May selectively regulate the apical recycling and/or transcytotic pathways (By similarity).
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| BNIP3 |
- |
|
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This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 …
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| PRRG2 |
- |
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-
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View
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| - |
- |
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-
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View
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| FGFR4 |
- |
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The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence …
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View
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| SLC41A2 |
- |
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-
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View
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| TMEM7 |
- |
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-
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View
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| WDR72 |
- |
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-
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View
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| - |
- |
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-
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View
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| CRYGC |
- |
|
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Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate …
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View
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| FHL3 |
- |
|
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LIM proteins are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[supplied by …
|
View
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| - |
- |
|
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-
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View
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| - |
- |
|
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-
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View
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| - |
- |
|
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-
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View
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| - |
- |
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-
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View
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| RUFY2 |
- |
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-
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| CNTNAP2 |
- |
|
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This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules …
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View
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| LHFPL1 |
- |
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-
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| ABCC9 |
- |
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The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport …
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| RB1 |
- |
|
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Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often …
|
View
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| MGST1 |
- |
|
|
The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are …
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View
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| ITGB2 |
- |
|
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The ITGB2 protein product is the integrin beta chain beta 2. Integrins are integral cell-surface proteins composed of an alpha …
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View
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| DHFRL1 |
- |
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-
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| TRPC5 |
- |
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Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated …
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View
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| NUDT11 |
- |
|
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NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002).[supplied by OMIM]
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| MAF1 |
- |
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The protein encoded by this gene is similar to the Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. …
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View
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| MLLT3 |
- |
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-
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View
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| - |
- |
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-
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View
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| CHMP4C |
- |
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-
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View
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| HOXA4 |
- |
|
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In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, …
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View
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| OLIG1 |
- |
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Promotes formation and maturation of oligodendrocytes, especially within the brain. Cooperates with OLIG2 to establish the pMN domain of the …
|
View
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| SLC18A3 |
- |
|
|
Involved in acetylcholine transport into synaptic vesicles.
|
View
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| - |
- |
|
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-
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View
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| PIN4 |
- |
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-
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View
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| CCAR1 |
- |
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-
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| TYRP1 |
- |
|
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Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized.
|
View
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| ING1 |
- |
|
|
This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a …
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View
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| ABCC4 |
- |
|
|
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport …
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View
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| - |
- |
|
|
-
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View
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| - |
- |
|
|
-
|
View
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| CRSP8 |
- |
|
|
The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in …
|
View
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| MRPL12 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
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View
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| VIL2 |
- |
|
|
The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member …
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View
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| TGM4 |
- |
|
|
Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in …
|
View
|
| LRP5 |
- |
|
|
Involved in the Wnt/beta catenin signaling pathway, probably by acting as a coreceptor together with Frizzled for Wnt.
|
View
|
| C10orf32 |
- |
|
|
-
|
View
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| VN1R1 |
- |
|
|
Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein …
|
View
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| KIAA0826 |
- |
|
|
-
|
View
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| GABRQ |
- |
|
|
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the …
|
View
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| - |
- |
|
|
-
|
View
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| EOMES |
- |
|
|
This gene encodes a member of a conserved protein family that shares a common DNA-binding domain, the T-box. T-box genes …
|
View
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| - |
- |
|
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-
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View
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| - |
- |
|
|
-
|
View
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| PML |
- |
|
|
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three …
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View
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| - |
- |
|
|
May be involved in some aspects of dynein-related intracellular transport and motility. May play a role in changing or maintaining …
|
View
|
| KCNS2 |
- |
|
|
Potassium channel subunit. Modulates channel activity and reduces the ion flow (By similarity).
|
View
|
| FGB |
- |
|
|
The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of …
|
View
|
| XAGE1 |
- |
|
|
This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed …
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View
|
| TRHR |
- |
|
|
Receptor for thyrotropin-releasing hormone. This receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.
|
View
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| - |
- |
|
|
-
|
View
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| RNF32 |
- |
|
|
The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety …
|
View
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| C21orf58 |
- |
|
|
-
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View
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| BCL7A |
- |
|
|
This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. …
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View
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| ZNF184 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| FBXO18 |
- |
|
|
This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino …
|
View
|
| NOTCH4 |
- |
|
|
This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics …
|
View
|
| FAM22C |
- |
|
|
-
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View
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| - |
- |
|
|
This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse.
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View
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| GNB2L1 |
- |
|
|
Seems to bind protein kinase C acting as an intracellular receptor to anchor the activated PKC to the cytoskeleton (By …
|
View
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| - |
- |
|
|
-
|
View
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| ABLIM2 |
- |
|
|
May act as scaffold protein.
|
View
|
| BTG1 |
- |
|
|
The BTG1 gene locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell …
|
View
|
| KIAA0141 |
- |
|
|
-
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View
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| - |
- |
|
|
-
|
View
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| HAPLN4 |
- |
|
|
Binds to hyaluronic acid and may be involved in formation of the extracellular matrix (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| CD300LB |
- |
|
|
-
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View
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| CRY1 |
- |
|
|
-
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View
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| CLEC2L |
- |
|
|
-
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View
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| ATP4B |
- |
|
|
The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a …
|
View
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| XCR1 |
- |
|
|
G protein-coupled receptor 5 is a chemokine receptor belonging to the G protein-coupled receptor superfamily. They are characterized by the …
|
View
|
| BPESC1 |
- |
|
|
-
|
View
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| MUSTN1 |
- |
|
|
-
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View
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| SIPA1L1 |
- |
|
|
-
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View
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| - |
- |
|
|
-
|
View
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| CLOCK |
- |
|
|
This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors. Polymorphisms within the encoded …
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View
|
| IL1RL1 |
- |
|
|
The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene …
|
View
|
| C5orf12 |
- |
|
|
-
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View
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| - |
- |
|
|
-
|
View
|
| CTNNA3 |
- |
|
|
-
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View
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| FUCA2 |
- |
|
|
Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins.
|
View
|
| - |
- |
|
|
-
|
View
|
| KLRF1 |
- |
|
|
Involved in the natural killer (NK)-mediated cytolysis of PHA-induced lymphoblasts.
|
View
|
| MBNL1 |
- |
|
|
Binds to CUG triplet repeat expansion dsRNA.
|
View
|
| NEO1 |
- |
|
|
May be involved as a regulatory protein in the transition of undifferentiated proliferating cells to their differentiated state. May also …
|
View
|
| FBXO3 |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| - |
- |
|
|
-
|
View
|
| IRAK1 |
- |
|
|
IRAK1 encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor …
|
View
|
| SCN4B |
- |
|
|
Sodium channel beta subunits, such as SCN4B, are auxiliary subunits that alter the channel kinetics of voltage-gated alpha subunits (see …
|
View
|
| SLC2A14 |
- |
|
|
Facilitative glucose transporter. Probably a neuronal glucose transporter.
|
View
|
| PRDM4 |
- |
|
|
The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and …
|
View
|
| ST7OT2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EHF |
- |
|
|
This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded …
|
View
|
| TTC12 |
- |
|
|
-
|
View
|
| MMP8 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| - |
- |
|
|
Involved in endocytosis (By similarity).
|
View
|
| NIPA2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| APC2 |
- |
|
|
-
|
View
|
| ZKSCAN1 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| DCD |
- |
|
|
Survival-promoting peptide promotes survival of neurons and displays phosphatase activity. It may bind IgG.
|
View
|
| KRT6B |
- |
|
|
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of …
|
View
|
| AP1G2 |
- |
|
|
Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to …
|
View
|
| C14orf161 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DGKB |
- |
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Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key …
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| ZNF690 |
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| SHOC2 |
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| GARS |
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Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Glycyl-tRNA synthetase is an (alpha)2 …
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