Gene:
GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
Gene ID:
202427
Symbol:
GLI3
Species:
1000
Description:
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as a transcription factor that binds to DNA through zinc finger motifs. These motifs have conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B.