{"symbol":"WDR81","synonyms":["PPP1R166","SORF-2","CAMRQ2","HYC3"],"name":"WD repeat domain 81","description":"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]","ncbiEntrezGeneId":124997,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/124997","proteins":[{"symbol":"WDR81_HUMAN","href":"/api/1.0/protein/WDR81_HUMAN"}],"hgncRootFamilies":[{"name":"Protein phosphatase 1 regulatory subunits (PPP1R)","href":"/api/1.0/gene_family/Protein+phosphatase+1+regulatory+subunits+%28PPP1R%29"},{"name":"WD repeat domain containing (WDR)","href":"/api/1.0/gene_family/WD+repeat+domain+containing+%28WDR%29"}]}