WDR81, Official Symbol WDR81provided by HGNC Official Full Name WD repeat domain 81provided by HGNC Primary source HGNC:HGNC:26600 See related Ensembl:ENSG00000167716 MIM:614218; AllianceGenome:HGNC:26600 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HYC3; CHMRQ; CAMRQ2; SORF-2; PPP1R166 Summary 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] Expression Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 5.7) and 25 other tissues See more Orthologs mouse all