Primary Identifier | MGI:97295 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 12366 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type endopeptidase activity. Acts upstream of or within ectopic germ cell programmed cell death; extrinsic apoptotic signaling pathway in absence of ligand; and positive regulation of apoptotic signaling pathway. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder. Orthologous to human CASP2 (caspase 2). PHENOTYPE: Homozygous mutation of this gene results in abnormal apoptosis. Apoptosis is reduced in the female germline, but is increased in sympathetic neurons during development. [provided by MGI curators] |