Gene: WDR81

Alternate names for this Gene: CAMRQ2|HYC3|PPP1R166|SORF-2

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: WD repeat domain 81

Type of Gene: protein-coding

rs11657394 in WDR81 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs59643265 in WDR81 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12150338 in WDR81 gene and Calcium level result PMID 20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

rs12150338 in WDR81 gene and Calcium measurement PMID 20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

rs587776906 in WDR81 gene and Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 PMID 21885617 2011 Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

PMID 26437881 2016 Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.