ZNF462
Function
Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965).
Involvement in disease
Weiss-Kruszka syndrome
WSKA
An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
O-GlcNAcylated with O-GlcNAc-6-phosphate.
Cellular localization
- Nucleus
Alternative names
KIAA1803, ZNF462, Zinc finger protein 462, Zinc finger PBX1-interacting protein, ZFPIP