GLI2
GLI2
A gene on chromosome 2q14 that encodes a protein belonging to the C2H2-type zinc finger protein subclass of the Gli family of transcription activators, which mediate Sonic hedgehog (Shh) signalling. GLI2 localises to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression, and may play a role in embryogenesis.Molecular pathology
GLI2 mutations have been linked to Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, pre-axial polydactyly type IV and postaxial polydactyly types A1 and B.