ZIC3
Description
The ZIC3 (Zic family member 3) is a protein-coding gene located on chromosome X.
ZIC3 belongs to the Zinc finger of the cerebellum (ZIC) protein family, characterized by five conserved C2H2 zinc fingers that enable DNA and protein interactions. These proteins are crucial for early development, and ZIC3 mutations are linked to various congenital defects. ZIC3 plays a role in left-right symmetry formation, and mutations are associated with heterotaxy, likely due to its involvement in maintaining redistributed Nodal after initial asymmetry establishment. ZIC3 mutations are also linked to heart defects, potentially representing a mild form of heterotaxy. Mouse studies have implicated ZIC3 in neural tube defects (spina bifida and exencephaly), skeletal defects, and neural crest specification, suggesting its involvement in planar cell polarity. Notably, ZIC3 is essential for maintaining embryonic stem cell pluripotency. Furthermore, ZIC3, similar to other ZIC family members, can inhibit Wnt signaling, a crucial pathway in development. The zinc finger domains are essential for this inhibitory function.
ZIC3 acts as a transcriptional activator and is essential for the initial stages of axial midline development and left-right asymmetry specification. It binds to the GLI-consensus sequence 5'-GGGTGGTC-3'.
ZIC3 is also known as HTX, HTX1, VACTERLX, ZNF203.
