Primary Identifier | MGI:88138 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 12043 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables molecular adaptor activity and protein phosphatase 2A binding activity. Involved in several processes, including hair follicle morphogenesis; mitochondrion organization; and negative regulation of reactive oxygen species metabolic process. Acts upstream of or within several processes, including apoptotic signaling pathway; hemopoiesis; and negative regulation of programmed cell death. Located in several cellular components, including mitochondrial membrane; myelin sheath; and nuclear membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; limb; and sensory organ. Used to study oligomeganephronia. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; carcinoma (multiple); hematologic cancer (multiple); intracranial aneurysm; and prostate cancer. Orthologous to human BCL2 (BCL2 apoptosis regulator). PHENOTYPE: Homozygous null mutants show pleiotropic abnormalities including small size, increased postnatal mortality, polycystic kidneys, apoptotic involution of thymus and spleen, graying in the second hair follicle cycle, and reduced numbers of motor, sympathetic and sensory neurons. [provided by MGI curators] |