Primary Identifier | MGI:99702 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 12028 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Hsp70 protein binding activity and identical protein binding activity. Involved in positive regulation of cysteine-type endopeptidase activity and positive regulation of neuron apoptotic process. Acts upstream of or within several processes, including apoptotic signaling pathway; mitochondrion organization; and regulation of apoptotic process. Located in cytosol; endoplasmic reticulum; and mitochondrial outer membrane. Part of BAX complex. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; ataxia telangiectasia; colon adenocarcinoma; and colorectal cancer. Orthologous to human BAX (BCL2 associated X, apoptosis regulator). PHENOTYPE: Homozygous null mutants display hyperplasia of thymocytes and B cells, reproductive failure with abnormal germ cells and gonadal morphology, and reduced cell death in the CNS and PNS. Female mutants exhibit a prolonged ovarian lifespan. [provided by MGI curators] |