WDR62
WD repeat-containing protein 62 is a protein that in humans is encoded by the WDR62 gene.Clinical relevance
Mutations in the WDR62 gene cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening, hypoplasia of the corpus callosum, polymicrogyria as well as microlissencephaly.
In 2018 Xu et al. showed that WDR62 stability and neurogenesis is regulated by MEKK3 in coordination with FBW7.
Prinz et al. showed a significant role for WDR62 in mediating activation of the JNK pathway in response to TNFα. This finding might have implication in the research of TNFα related diseases such as autoimmune diseases and cancer.
In 2020 Shohayeb et al. revealed a relationship between the cortical malformation, associated with WDR62 point mutations occurring in humans, and ciliopathies. These WDR62 point mutations drive ciliary disruption in Radial glial cell via disrupting the cilia and centrosome localization of CENPJ and the Intraflagellar transport protein 88, which are required for tubulin requitment to centrosome and transport of tubulin to the cilia tip, respectively.
