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 7.1.0) Enables Hsp70 protein binding activity and identical protein binding activity. Involved in 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] |