Aliases for WDR81 Gene
External Ids for WDR81 Gene
Previous GeneCards Identifiers for WDR81 Gene
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]
GeneCards Summary for WDR81 Gene
WDR81 (WD Repeat Domain 81) is a Protein Coding gene. Diseases associated with WDR81 include Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 and Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is NBEAL2.
UniProtKB/Swiss-Prot for WDR81 Gene
Seems to have a role in maintenance of normal mitochondrial structure and organization. Promotes Purkinje and photoreceptor cell survival.