Primary Identifier | MGI:88263 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 12333 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium-dependent cysteine-type endopeptidase activity. Acts upstream of or within mammary gland involution; proteolysis; and receptor catabolic process. Located in cytosol; lysosome; and mitochondrion. Is active in cornified envelope. Is expressed in liver; molar; oral region epithelium; and skin. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 76. Orthologous to human CAPN1 (calpain 1). PHENOTYPE: Animals homozygous for a mutation of this gene exhibit decreased platelet aggregation and defective clot retraction although bleeding times remain similar to wild-type. [provided by MGI curators] |