Aliases for WDR81 Gene
External Ids for WDR81 Gene
Previous GeneCards Identifiers for WDR81 Gene
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]
GeneCards Summary for WDR81 Gene
WDR81 (WD Repeat Domain 81) is a Protein Coding gene. Diseases associated with WDR81 include Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 and Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is NBEAL2.
UniProtKB/Swiss-Prot for WDR81 Gene
Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C (PubMed:28404643). May also be involved in maintenance of normal mitochondrial structure and organization (By similarity).