| Primary Identifier | MGI:109553 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 13032 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type peptidase activity; peptidase activator activity involved in apoptotic process; and serine-type endopeptidase activity. Involved in T cell mediated cytotoxicity and proteolysis. Acts upstream of or within negative regulation of myelination; positive regulation of apoptotic signaling pathway; and positive regulation of microglial cell activation. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study schizophrenia. Human ortholog(s) of this gene implicated in Papillon-Lefevre disease and aggressive periodontitis. Orthologous to human CTSC (cathepsin C). PHENOTYPE: Homozygotes for some targeted null mutations exhibit cytotoxic lymphocytes with inactive granzymes A and B which are incapable of granule-mediated apoptosis. Mutant mast cells lack activated chymase activity. Homozygotes for other alleles display a scruffy coat with age and behavioral abnormalities [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
