Gene Symbol | WDR81 |
Entrez Gene ID | 124997 |
Full Name | WD repeat domain 81 |
Synonyms | CAMRQ2,PPP1R166,SORF-2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) |