Gli3 belongs to the C2H2-type zinc finger proteins subclass of the Gli family. Gli3 is a known transcriptional repressor but may also have a positive transcriptional function. Gli3 represses dHand and Gremlin, which are involved in developing digits. Gli3 mutant mice have many abnormalities including CNS and lung defects and limb polydactyly. 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.
