GLI3 GLI family zinc finger 3 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 2737)
Source: NCBI Gene (ID 2737)
Symbol: GLI3
Full name: GLI family zinc finger 3
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV
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]
Expression: Broad expression in ovary (RPKM 4.0), endometrium (RPKM 3.1) and 22 other tissues
Orthologs: mouse
Gene size: 303320bp
Exon count: 22