Zic Family, Member 2 (ZIC2)

ZIC2 encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13.The human ZIC2 gene was identified by defining a region of conserved synteny with the mouse genome, using several anonymous cDNA clones that had previously been assigned to chromosome 13q32.