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. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
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.
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.