WDR62
Description
The WDR62 (WD repeat domain 62) is a protein-coding gene located on chromosome 19.
WDR62 is a scaffold protein that interacts with different kinases and plays a role in mediating activation of the JNK pathway in response to TNFα, which could have implications in the research of TNFα related diseases such as autoimmune diseases and cancer. Upregulation of WDR62 can lead to overproliferation of glia cells and potentially glioma, and this is coupled with an upregulation in AURKA, AKT, MYC and PI3K signalling. WDR62's effect on neurogenesis is regulated by MEKK3 in coordination with FBW7. WDR62 has a regulatory role on hippocampus development and neurogenesis, and is also involved in male spermatogenesis with an essential role in centriole duplication and manchette removal during the spermatogenesis process. Deficiency of WDR62 results in low sperm counts with defected motility and abnormal morphology. Mutations in the WDR62 gene can cause a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening, hypoplasia of the corpus callosum, polymicrogyria and microlissencephaly.
Required for cerebral cortical development. Plays a role in neuronal proliferation and migration. Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication.
WDR62 is also known as C19orf14, MCPH2.
Associated Diseases
- Autosomal recessive primary microcephaly
- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
