| Primary Identifier | MGI:2681828 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 192652 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity and phosphatidylinositol 3-kinase inhibitor activity. Involved in mitochondrion organization. Located in mitochondrion. Is expressed in cerebral cortex. Human ortholog(s) of this gene implicated in cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 and hydrocephalus. Orthologous to human WDR81 (WD repeat domain 81). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit weight loss, tremors, ataxia and an abnormal gait, as well as abnormal mitochondria in Purkinje cell dendrites, Purkinje cell degeneration, photoreceptor cell loss, and decreased total retina thickness. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
