| CASC2 |
- |
|
|
-
|
View
|
| GATM |
- |
|
|
-
|
View
|
| SURB7 |
- |
|
|
Regulation of transcription.
|
View
|
| - |
- |
|
|
-
|
View
|
| LEFTY2 |
- |
|
|
This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role …
|
View
|
| GKAP1 |
- |
|
|
-
|
View
|
| FGF6 |
- |
|
|
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C20orf172 |
- |
|
|
Required for correct chromosome alignement during metaphase. Part of the MIS12 complex, which may be fundamental for kinetochore formation and …
|
View
|
| SMARCC1 |
- |
|
|
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and …
|
View
|
| SAFB |
- |
|
|
This gene encodes a DNA-binding protein that has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). …
|
View
|
| EIF2B1 |
- |
|
|
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
|
View
|
| NCLN |
- |
|
|
May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning (By similarity).
|
View
|
| SSH2 |
- |
|
|
The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated …
|
View
|
| PIGW |
- |
|
|
-
|
View
|
| PMS2L5 |
- |
|
|
-
|
View
|
| GABRA4 |
- |
|
|
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride …
|
View
|
| CPO |
- |
|
|
-
|
View
|
| THRA |
- |
|
|
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors …
|
View
|
| - |
- |
|
|
-
|
View
|
| RING1 |
- |
|
|
This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding …
|
View
|
| - |
- |
|
|
-
|
View
|
| RBP5 |
- |
|
|
Intracellular transport of retinol.
|
View
|
| APOBEC3B |
- |
|
|
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes …
|
View
|
| DECR1 |
- |
|
|
This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters.
|
View
|
| - |
- |
|
|
-
|
View
|
| HCRTR1 |
- |
|
|
HCRTR1, or orexin 1 receptor (OX1R), is a G-protein coupled receptor expressed in the hypothalamus and involved in the regulation …
|
View
|
| CDH5 |
- |
|
|
This gene is a classical cadherin from the cadherin superfamily and is located in a six-cadherin cluster in a region …
|
View
|
| WDR19 |
- |
|
|
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 …
|
View
|
| NCOA5 |
- |
|
|
This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein …
|
View
|
| SPINK4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RARB |
- |
|
|
This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This …
|
View
|
| RPL26 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| IFNGR2 |
- |
|
|
The protein encoded by this gene is a type I integral membrane protein and belongs to the type II cytokine …
|
View
|
| DGCR11 |
- |
|
|
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal …
|
View
|
| PMP22 |
- |
|
|
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various …
|
View
|
| MBD3L2 |
- |
|
|
This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has …
|
View
|
| GOSR1 |
- |
|
|
This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi …
|
View
|
| HMGN2 |
- |
|
|
Bind to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. …
|
View
|
| DKK2 |
- |
|
|
This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich …
|
View
|
| NUP35 |
- |
|
|
This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is part …
|
View
|
| DERL1 |
- |
|
|
Specifically required for the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins …
|
View
|
| ASCC3 |
- |
|
|
Enhances NF-kappa-B, SRF and AP1 transactivation.
|
View
|
| MPP4 |
- |
|
|
May play a role in retinal photoreceptors development (By similarity).
|
View
|
| CRYZL1 |
- |
|
|
This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like …
|
View
|
| ALG1 |
- |
|
|
The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise …
|
View
|
| FDFT1 |
- |
|
|
-
|
View
|
| SLURP1 |
- |
|
|
The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It …
|
View
|
| SEC23B |
- |
|
|
The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved …
|
View
|
| - |
- |
|
|
-
|
View
|
| C21orf122 |
- |
|
|
-
|
View
|
| GAS1 |
- |
|
|
Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal …
|
View
|
| LDOC1L |
- |
|
|
-
|
View
|
| C13orf22 |
- |
|
|
-
|
View
|
| SREBF1 |
- |
|
|
This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the …
|
View
|
| BCL2L11 |
- |
|
|
The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and …
|
View
|
| PLEKHA2 |
- |
|
|
Binds specifically to phosphatidylinositol-3,4- diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By …
|
View
|
| - |
- |
|
|
Transports folate across the inner membranes of mitochondria.
|
View
|
| - |
- |
|
|
-
|
View
|
| MRPL27 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| PRDM5 |
- |
|
|
The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and …
|
View
|
| C10orf128 |
- |
|
|
-
|
View
|
| MYOD1 |
- |
|
|
This gene product belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It is involved …
|
View
|
| SPATA12 |
- |
|
|
-
|
View
|
| LBP |
- |
|
|
The protein encoded by this gene is an integral membrane protein involved in the acute-phase immunologic response to gram-negative bacterial …
|
View
|
| SPOCK2 |
- |
|
|
Proteoglycans, which consist of a core protein and covalently linked glycosaminoglycans, are components of the extracellular matrix. SPOCK2 encodes a …
|
View
|
| CHI3L1 |
- |
|
|
May play an important role in the capacity of cells to respond to and cope with changes in their environment. …
|
View
|
| C5 |
- |
|
|
Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory process. It induces the contraction …
|
View
|
| SDCCAG1 |
- |
|
|
-
|
View
|
| CBFB |
- |
|
|
The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF …
|
View
|
| PRIM1 |
- |
|
|
The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase …
|
View
|
| TTR |
- |
|
|
Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
|
View
|
| - |
- |
|
|
-
|
View
|
| PARP9 |
- |
|
|
-
|
View
|
| NANS |
- |
|
|
This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses …
|
View
|
| - |
- |
|
|
The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in …
|
View
|
| - |
- |
|
|
-
|
View
|
| HAPLN1 |
- |
|
|
Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.
|
View
|
| RPH3AL |
- |
|
|
-
|
View
|
| STIM1 |
- |
|
|
This gene encodes a type 1 transmembrane protein of unknown function. It is one of several genes located in the …
|
View
|
| - |
- |
|
|
-
|
View
|
| OR7E47P |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| POLL |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SMR3A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| APOD |
- |
|
|
Apolipoprotein D (Apo-D) is a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It …
|
View
|
| KIAA1967 |
- |
|
|
-
|
View
|
| ASIP |
- |
|
|
In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow …
|
View
|
| RPUSD1 |
- |
|
|
-
|
View
|
| RFC2 |
- |
|
|
The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating …
|
View
|
| ASAH2 |
- |
|
|
-
|
View
|
| CAPZB |
- |
|
|
CAPZB is a member of the F-actin capping protein family. This gene encodes the beta subunit of the barbed-end actin …
|
View
|
| - |
- |
|
|
-
|
View
|
| EXTL2 |
- |
|
|
Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked …
|
View
|
| IK |
- |
|
|
The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and …
|
View
|
| TSC22D3 |
- |
|
|
The protein encoded by this gene shares significant sequence identity with the murine TSC-22 and Drosophila shs, both of which …
|
View
|
| C12orf22 |
- |
|
|
May play a role in apoptosis.
|
View
|
| COL11A2 |
- |
|
|
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located …
|
View
|
| GPC4 |
- |
|
|
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate …
|
View
|
| C13orf8 |
- |
|
|
-
|
View
|
| PRICKLE1 |
- |
|
|
Necessary for nuclear localization of REST. May serve as nuclear receptor.
|
View
|
| PLEKHC1 |
- |
|
|
Participates in the connection between ECM adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly …
|
View
|
| PUM2 |
- |
|
|
Sequence-specific RNA-binding protein that regulates translation and mRNA stability by binding the 3' untranslated regions (UTRs) of mRNA targets. Its …
|
View
|
| - |
- |
|
|
-
|
View
|
| UTS2D |
- |
|
|
Potent vasoconstrictor (By similarity).
|
View
|
| IL10RA |
- |
|
|
The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. …
|
View
|
| SEC23IP |
- |
|
|
COPII-coated vesicles are involved in protein transport from the endoplasmic reticulum to the Golgi apparatus. The protein encoded by this …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be …
|
View
|
| ANXA2P1 |
- |
|
|
-
|
View
|
| GTF2F2 |
- |
|
|
TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the …
|
View
|
| C9orf74 |
- |
|
|
-
|
View
|
| SIGLEC11 |
- |
|
|
SIGLECs are a family of cell surface lectins defined by shared structural motifs in the first 2 immunoglobulin (Ig)-like domains …
|
View
|
| SGK |
- |
|
|
This gene encodes a serine/threonine protein kinase that is highly similar to the rat serum-and glucocorticoid-induced protein kinase (SGK). This …
|
View
|
| ORC3L |
- |
|
|
The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA …
|
View
|
| - |
- |
|
|
-
|
View
|
| TLE4 |
- |
|
|
-
|
View
|
| SFTPA2 |
- |
|
|
-
|
View
|
| EIF1AY |
- |
|
|
This gene encodes a protein similar to eukaryotic translation initiation factor 1A (EIF1A). EIF1A is required for the binding of …
|
View
|
| HAL |
- |
|
|
Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic …
|
View
|
| CDC42SE1 |
- |
|
|
-
|
View
|
| GRIA2 |
- |
|
|
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal …
|
View
|
| SCYL2 |
- |
|
|
-
|
View
|
| COQ6 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SERPINF1 |
- |
|
|
Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S …
|
View
|
| ZNF529 |
- |
|
|
-
|
View
|
| CHMP1B |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C10orf58 |
- |
|
|
-
|
View
|
| SERTAD3 |
- |
|
|
The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication …
|
View
|
| VIM |
- |
|
|
Along with the microfilaments (actins) and microtubules (tubulins), the intermediate filaments represent a third class of well-characterized cytoskeletal elements. The …
|
View
|
| VANGL2 |
- |
|
|
The VANGL2 gene encodes a homolog of Drosophila 'strabismus/Van Gogh' (Stbm/Vang), a component of the frizzled-disheveled tissue polarity pathway.[supplied by …
|
View
|
| RHBDL6 |
- |
|
|
-
|
View
|
| SF4 |
- |
|
|
SF4 is a member of the SURP family of splicing factors.[supplied by OMIM]
|
View
|
| YSK4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| IL17F |
- |
|
|
The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by …
|
View
|
| LPL |
- |
|
|
LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has …
|
View
|
| - |
- |
|
|
-
|
View
|
| SUSD4 |
- |
|
|
-
|
View
|
| H3F3A |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
|
View
|
| ESCO1 |
- |
|
|
Acetyltransferase required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure …
|
View
|
| SIRPB2 |
- |
|
|
The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin …
|
View
|
| CIDEC |
- |
|
|
Isoforms 1 and 2 induce apoptosis.
|
View
|
| S100A12 |
- |
|
|
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. …
|
View
|
| - |
- |
|
|
-
|
View
|
| FOXD2 |
- |
|
|
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific …
|
View
|
| CIDEA |
- |
|
|
This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of …
|
View
|
| ORMDL2 |
- |
|
|
-
|
View
|
| TRPM3 |
- |
|
|
The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels …
|
View
|
| SLC28A3 |
- |
|
|
Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| BAHD1 |
- |
|
|
-
|
View
|
| NCF2 |
- |
|
|
This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein complex known as NADPH oxidase found …
|
View
|
| TTC21B |
- |
|
|
-
|
View
|
| OIP5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MATN1 |
- |
|
|
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought …
|
View
|
| EMILIN1 |
- |
|
|
May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation …
|
View
|
| WDR44 |
- |
|
|
-
|
View
|
| CABLES2 |
- |
|
|
Unknown. Probably involved in G1-S cell cycle transition.
|
View
|
| OLIG3 |
- |
|
|
May determine the distinct specification program of class A neurons in the dorsal part of the spinal cord and suppress …
|
View
|
| SCRIB |
- |
|
|
May be required for polarization of epithelia (By similarity).
|
View
|
| C14orf32 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC25A29 |
- |
|
|
Has palmitoylcarnitine transporting activity (By similarity).
|
View
|
| ANKRD20B |
- |
|
|
-
|
View
|
| - |
- |
|
|
May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation.
|
View
|
| LPHN2 |
- |
|
|
This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell …
|
View
|
| MTAC2D1 |
- |
|
|
-
|
View
|
| CLK1 |
- |
|
|
Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex may be a constituent of a network of regulatory mechanisms …
|
View
|
| PRSS3 |
- |
|
|
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed …
|
View
|
| PDCL |
- |
|
|
Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, …
|
View
|
| - |
- |
|
|
-
|
View
|
| COX4I1 |
- |
|
|
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that …
|
View
|
| - |
- |
|
|
-
|
View
|
| MED9 |
- |
|
|
The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. …
|
View
|
| IL17E |
- |
|
|
The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. This cytokine can induce …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LIMK2 |
- |
|
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There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly …
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| GNAT2 |
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Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. …
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| LASS1 |
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The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. …
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| TEKT2 |
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This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled …
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| PHF21B |
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| IL6ST |
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The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic …
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| C20orf18 |
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The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein at the amino acid level. The function …
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| CSEN |
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This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin …
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| RAD51AP1 |
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May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. …
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| ATOX1 |
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This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to …
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| MARCKSL1 |
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| DSCR2 |
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