| Primary Identifier | MGI:88562 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 13033 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aspartic-type endopeptidase activity. Involved in insulin catabolic process and insulin receptor recycling. Acts upstream of or within autophagosome assembly. Located in extracellular space and lysosome. Is active in endosome lumen. Is expressed in several structures, including central nervous system; extraembryonic component; eye; genitourinary system; and lung. Used to study neuronal ceroid lipofuscinosis 10. Human ortholog(s) of this gene implicated in Alzheimer's disease; breast cancer; and neuronal ceroid lipofuscinosis 10. Orthologous to human CTSD (cathepsin D). PHENOTYPE: Mice homozygous for a null mutation die in a state of anorexia at around age P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells. Near the terminal stage, affected mice have seizures, display retinal atrophy, and become blind. [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
