Primary Identifier | MGI:107739 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 12367 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables aspartic-type endopeptidase activity; cyclin-dependent protein serine/threonine kinase inhibitor activity; and cysteine-type endopeptidase activity involved in execution phase of apoptosis. Involved in intrinsic apoptotic signaling pathway in response to osmotic stress and positive regulation of apoptotic process. Acts upstream of or within several processes, including anterior neural tube closure; lymphocyte homeostasis; and negative regulation of lymphocyte proliferation. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and heart. Human ortholog(s) of this gene implicated in Parkinson's disease; colon cancer; lung non-small cell carcinoma; and stomach cancer. Orthologous to human CASP3 (caspase 3). PHENOTYPE: Some homozygous animals show defects in brain development by embryonic day 12, reduced neuronal apoptosis causing hyperplasias, and pre- and postnatal lethality. Other homozygous animals exhibit only hearing loss, inner ear defects and degeneration of spiral ganglion neurons. [provided by MGI curators] |