GLI Family Zinc Finger Protein 3 (GLI3)

GCPS, PHS; PAP-A; PAPA; PAPA1; PAPB; ACLS; PPDIV; Greig Cephalopolysyndactyly Syndrome; Glioma-Associated Oncogene Family Zinc Finger 3; GLI3 form of 190 kDa

SPN	O047
HGNC	4319
MGI	95729
PubMed	2118997
UniProt	P10071
Wiki	GLI3

GLI3 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.Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium. The extent of this transcript is supported by transcript alignments.

Reference

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