WDR81 gene

WD repeat domain 81

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Seems to have a role in maintenance of normal mitochondrial structure and organization. Promotes Purkinje and photoreceptor cell survival.

From NCBI Gene:

  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

From UniProt:

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2): A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. [MIM:610185]

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3

Molecular Location: base pairs 1,716,523 to 1,738,599 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3
  • CAMRQ2
  • PPP1R166
  • SORF-2