WDR62

WDR62

A gene on chromosome 19q13.12 that encodes a member of the WD-repeat protein family required for the development of the cerebral cortex and which plays a role in neuronal proliferation and migration.

Molecular pathology
Defects in WDR62 cause microcephaly primary type 2.
References in periodicals archive ?
Microcephalin which corresponds to MCPH1, WDR62 (WD repeat-containing protein 62) at MCPH2, CDK5RAP2 (CDK5 regulatory subunit-associated protein 2) at MCPH3, CEP152 (centrosomal protein, 152-KD) at MCPH4, ASPM (abnormal spindle like microcephaly associated) at MCPH5, CENPJ (centromeric protein J) at MCPH6 and STIL corresponding to MCPH7.
recently used whole exome sequencing to determine that several distinct types of malformations of cortical development, including microcephaly, pachygyria with cortical thickening, and hypoplasia of the corpus callosum, were all associated with recessive mutations in a single gene, WDR62 (Nature 2010;467:207-10).