GLI3

GLI32017-01-03T15:13:19+00:00

GLI3

MOLECULAR MEDICINE

The gene on chromosome 7p13 that encodes GLI family zinc finger protein 3 (OMIM: 165240, UniProtKB: P10071), a DNA-binding C2H2-type zinc finger protein of the Gli family, which plays a role in limb development. The Gli family are DNA-binding transcription factors and mediate Sonic hedgehog (Shh) signaling. The full length GLI3–GLI3FL is a transcriptional activator; GLI3R, the C-terminally truncated form represses the Shh pathway.

Molecular pathology Defects of GLI3 cause:

• Greig cephalopolysyndactyly syndrome (OMIM:175700)

• Pallister-Hall syndrome 1 (OMIM:146510)

• Preaxial polydactyly 4 (OMIM:174700)

• Postaxial polydactyly A1 (OMIM:174200)

• Postaxial polydactyly B (OMIM:174200)

Synonyms Glioma-associated oncogene family zinc finger 3, ACLS, PAPA, PAPB, Greig cephalopolysyndactyly syndrome, GCPS, transcriptional activator GLI3, PAPA1, zinc finger proteinGLI3, PHS, GLI-Kruppel family memberGLI3

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLI3

http://www.uniprot.org/uniprot/P10071

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