Primary Identifier | MGI:1913843 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 66593 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in positive regulation of apoptotic process. Acts upstream of or within intrinsic apoptotic signaling pathway in response to oxidative stress; neuron apoptotic process; and positive regulation of cysteine-type endopeptidase activity. Located in cytoplasmic side of plasma membrane and mitochondrion. Part of CD40 receptor complex. Is expressed in several structures, including cerebral cortex subventricular zone; cochlea; early conceptus; ganglia; and pancreas epithelium. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 64. Orthologous to human DIABLO (diablo IAP-binding mitochondrial protein). PHENOTYPE: Homozygotes are viable and fertile with no gross morphological or histological abnormalities. Normal induction of apoptosis in UV-irradiated or Fas-antibody treated cells was noted, and these mice also exhibit normal T and B cell proliferative responses. [provided by MGI curators] |