GLI3 (Entrez ID: 2737)

Entrez Gene ID 2737
Official Gene Symbol GLI3 (GeneCards)
Full name GLI family zinc finger 3
Location 7p14.1
Other ids Vega : OTTHUMG00000023630
MIM : 165240
HGNC : HGNC:4319
Ensembl : ENSG00000106571
Other names PHS, ACLS, GCPS, PAPA, PAPB, PAP-A, PAPA1, PPDIV, GLI3FL, GLI3-190
Summary This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and 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. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]

Variants

Found 8 variants in this database.