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HPMR

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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


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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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]
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization
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Follicle stages
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Phenotypes
Mutations 0 mutations
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Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Feb. 5, 2014, 2:39 p.m. by: hsueh   email:
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last update: Feb. 5, 2014, 2:39 p.m. by: hsueh    email:



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