Primary Identifier | MGI:97051 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 17449 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-malate dehydrogenase (NAD+) activity. Involved in malate-aspartate shuttle. Located in mitochondrion and myelin sheath. Is active in cytosol. Is expressed in several structures, including alimentary system; metanephros; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 88. Orthologous to human MDH1 (malate dehydrogenase 1). PHENOTYPE: An ENU-induced mutation results in prenatal lethality in homozygotes and decreased enzyme activity in heterozygotes. [provided by MGI curators] |