Thursday 17 February 2005
GLI2 encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family (GLIs).
Members of the GLIs subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links.
Gli family zinc finger proteins (GLIs) are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell.
The protein Gli2 encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH1) 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.
mutations of GLI2 in pituitary anomalies with holoprosencephaly-like features (MIM.165230)