WDR81

Chr 17

WD repeat domain 81

Also known as: CAMRQ2, CHMRQ, HYC3, PPP1R166, SORF-2

NCBI Gene: 124997 ENSG00000167716 UniProt: Q562E7

This protein functions as a negative regulator of PI3 kinase activity on endosomal membranes and is required for endosome fusion, recycling, and early-to-late endosome transport, as well as aggrephagy of ubiquitinated protein aggregates. Biallelic mutations cause autosomal recessive cerebellar ataxia with impaired intellectual development and dysquilibrium syndrome (CAMRQ2) and congenital hydrocephalus with brain anomalies through loss-of-function mechanisms that disrupt endolysosomal trafficking. The gene shows moderate constraint against loss-of-function variants, consistent with recessive inheritance requiring biallelic mutations for disease manifestation.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…