Primary Identifier | MGI:102500 | Organism | mouse, laboratory |
Chromosome | MT | NCBI Gene Number | 17717 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable NADH dehydrogenase (ubiquinone) activity; ionotropic glutamate receptor binding activity; and protein kinase binding activity. Acts upstream of or within reactive oxygen species metabolic process. Located in mitochondrion. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. Is expressed in early conceptus; heart; secondary oocyte; and tibialis anterior. Human ortholog(s) of this gene implicated in Leber hereditary optic neuropathy; multiple sclerosis; myocardial infarction; neurodegenerative disease (multiple); and urinary bladder cancer. Orthologous to human MT-ND2 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2). PHENOTYPE: A single point mutation specific to the ALR/Lt strain confers increased resistance to autoimmune diabetes. A conplastic strain generated with ALR nuclear DNA and NOD mtDNA exhibits increased mitochondrial ROS production relative to either parental strain, NOD.mtALR or C57BL/6 controls. [provided by MGI curators] |