Zic Family, Member 5 (ZIC5)

Zic5 is responsible for human brain malformation syndrome. Zic5 was expressed in dorsal part of neural tissues and limbs. Expression of Zic5 overlapped with those of other Zic genes, most closely with Zic2, but was not identical. Targeted disruption of Zic5 resulted in insufficient neural tube closure at the rostral end, similar to that seen in Zic2 mutant mice.

Zic5-deficient mice exhibited malformation of neural-crest-derived facial bones, especially the mandible, which had not been observed in other Zic family mutants. When mouse Zic5 was overexpressed in Xenopus embryos, expression of a neural crest marker was enhanced. Zic5 is involved in the generation of neural crest tissue in mouse development.