Primary Identifier | MGI:1913775 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 66525 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including cysteine-type endopeptidase activator activity; interleukin-2 receptor binding activity; and phosphoprotein phosphatase activity. Predicted to be involved in mitochondrial membrane organization; protein dephosphorylation; and protein import into mitochondrial matrix. Predicted to act upstream of or within release of cytochrome c from mitochondria. Located in mitochondrion. Is expressed in several structures, including adrenal gland; alimentary system; cerebral cortex; olfactory epithelium; and submandibular gland primordium. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 9. Orthologous to human TIMM50 (translocase of inner mitochondrial membrane 50). PHENOTYPE: Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. [provided by MGI curators] |