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WDR81

Official Full Name
WD repeat domain 81
Organism
Homo sapiens
GeneID
124997
Background
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]
Synonyms
HYC3; CHMRQ; CAMRQ2; SORF-2; PPP1R166;

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