Primary Identifier | MGI:107341 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 13040 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type endopeptidase activity. Involved in basement membrane disassembly; positive regulation of cation channel activity; and proteolysis involved in protein catabolic process. Acts upstream of or within positive regulation of inflammatory response and proteolysis. Located in lysosome and membrane. Is expressed in several structures, including blastocyst; blood vessel; central nervous system; lung; and uterus. Used to study Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in neuropathy. Orthologous to human CTSS (cathepsin S). PHENOTYPE: Homozygous null mice are resistant to the development of experimental autoimmune myasthenia gravis and showed reduced T and B cell responses to acetylcholine receptor. [provided by MGI curators] |