| GLI family zinc finger 3 | OKDB#: 4971 |
| Symbols: | GLI3 | Species: | human | ||
| Synonyms: | PHS, ACLS, GCPS, PAPA, PAPB, PAP-A, PAPA1, PPDIV, GLI3FL, GLI3-190, | Locus: | 7p13 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Feb. 5, 2014, 2:39 p.m. | by: |
hsueh email:
home page: |
| last update: | Feb. 5, 2014, 2:39 p.m. | by: | hsueh email: |
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