| Primary Identifier | MGI:97748 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 19025 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable serine-type carboxypeptidase activity. Involved in negative regulation of chaperone-mediated autophagy and regulation of protein stability. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; cranium; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in galactosialidosis and lysosomal storage disease. Orthologous to human CTSA (cathepsin A). PHENOTYPE: Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months. [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
