| Primary Identifier | MGI:104873 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 11593 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity. Predicted to be involved in protein deglycosylation. Located in lysosome. Is expressed in central nervous system; choroid plexus; and nervous system. Used to study aspartylglucosaminuria. Human ortholog(s) of this gene implicated in aspartylglucosaminuria and lysosomal storage disease. Orthologous to human AGA (aspartylglucosaminidase). PHENOTYPE: Mice homozygous for targeted mutations that inactivate this gene die prematurely and share most of the clinical, biochemical and histopathological characteristics of human aspartylglycosaminuria. [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
