ZIC3 or zinc finger protein of the cerebellum 3 is a 50 kDa (predicted) member of the GLI C2H2type Zn finger protein family. It is involved in the maintenance of pluripotency in ES cells by preventing endodermal lineage specification in embryonic stem cells. The protein is also expressed in the cerebellum.
Defects in ZIC3 are the cause of visceral heterotaxy X-linked type 1 (HTX1). A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects.
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