WDR81

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolWDR81
NameWD repeat domain 81
Typeprotein-coding
Sourcemygene

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].

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This is an externally resolved entity

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