| Name | GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) |
| Symbol | GLI3 |
| Aliases | PHS; GCPS; PAPA; PAPB; PAP-A; PAPA1; PPDIV; oncogene GLI3; DNA-binding protein; zinc finger protein GLI3 |
| Gene Product | - GLI-Kruppel family member GLI3
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| Category | |
| UniGene |
Hs.72916
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | 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. |
| Gene Ontology | |
| Expression | | EST (66 ESTs, 47 libraries) |
| Tissue | Breadth ? |
CPM ? |
| adipose |  | | | blood | | | | bone | | | | brain | | | | cartilage | | | | embryo | | | | head and neck | | | | heart | | | | kidney |  | | | lung | | | | mammary gland | | | | muscle | | | | nervous | | | | oral cavity | | | | ovary | | | | pancreas | | | | placenta | | | | skin | | | | testis | | | | uncharacterized tissue | | | | uterus | | | | whole body | | |
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| SAGE (1630854 tags, 31 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | colon | | | | eye | | | | foreskin | | | | mammary gland | | | | ovary | | | | prostate | | | | skin | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Deletion in System Syndrom with Kidney Involvment
- Nagata K, Yamamoto T, Chikumi H, Ikeda T, Yamamoto H, Hashimoto K, Yoneda K, Nanba E, Ninomiya H, Ishitobi K, Nagata K, Yamamoto T, Chikumi H, Ikeda T, Yamamoto H, Hashimoto K, Yoneda K, Nanba E, Ninomiya H, Ishitobi K A novel interstitial deletion of KAL1 in a Japanese family with Kallmannsyndrome. J Hum Genet 2000;45(4):237-40.
- Zenteno JC, Mendez JP, Maya-Nunez G, Ulloa-Aguirre A, Kofman-Alfaro S, Zenteno JC, Mendez JP, Maya-Nunez G, Ulloa-Aguirre A, Kofman-Alfaro S Renal abnormalities in patients with Kallmann syndrome. BJU Int 1999 Mar;83(4):383-6.
Other key publications related to this gene
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