| Primary Identifier | MGI:1099442 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 110616 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cysteine-type deubiquitinase activity and ubiquitin protein ligase binding activity. Involved in cellular response to misfolded protein; monoubiquitinated protein deubiquitination; and proteolysis involved in protein catabolic process. Acts upstream of or within several processes, including cellular response to heat; exploration behavior; and ubiquitin-dependent protein catabolic process. Located in mitochondrial matrix; mitochondrial membrane; and nuclear inclusion body. Is expressed in several structures, including alimentary system; brain; hemolymphoid system gland; musculature; and testis. Used to study Machado-Joseph disease. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Orthologous to human ATXN3 (ataxin 3). PHENOTYPE: Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker. [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
