| Primary Identifier | MGI:87914 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 11484 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aspartoacylase activity. Involved in acetate metabolic process and aspartate metabolic process. Located in cytosol. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; sensory organ; and skeleton. Used to study Canavan disease. Human ortholog(s) of this gene implicated in Canavan disease. Orthologous to human ASPA (aspartoacylase). PHENOTYPE: Homozygous null mutants have spongy degeneration of the brain, enlarged heads, and decreased life spans and display metal retardation and impaired coordination. Additionally, mice homozygous for an ENU-induced mutation also exhibit hearing impairment. [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
