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.
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Protein Aliases: anterior digit pattern deformity; brachyphalangy; extra toes; GLI-Kruppel family member GLI3; GLI3 C-terminally truncated form; GLI3 form of 190 kDa; GLI3 form of 83 kDa; GLI3 full length protein; GLI3 full-length protein; GLI3-190; GLI3-83; GLI3FL; glioma-associated oncogene family zinc finger 3; oncogene GLI3; polydactyly Nagoya; Transcriptional activator GLI3; Transcriptional repressor GLI3R; zinc finger protein GLI3
Gene Aliases: ACLS; add; AI854843; AU023367; Bph; GCPS; GLI3; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; Pdn; PHS; PPDIV; Xt
Molecular Function: DNA-binding transcription factor