| 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 8.0.0) Enables aspartic-type endopeptidase activity; cyclin-dependent protein serine/threonine kinase inhibitor activity; and cysteine-type endopeptidase activity. Involved in intrinsic apoptotic signaling pathway in response to osmotic stress; positive regulation of apoptotic process; and regulation of synaptic vesicle cycle. 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 active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. 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] |
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
