Primary Identifier | MGI:95792 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 14719 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables L-aspartate:2-oxoglutarate aminotransferase activity. Acts upstream of or within dicarboxylic acid metabolic process. Located in mitochondrion. Is active in mitochondrial matrix. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Used to study early infantile epileptic encephalopathy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 82. Orthologous to human GOT2 (glutamic-oxaloacetic transaminase 2). PHENOTYPE: Homozygosity for knockout or certain in-frame deletion or missense alleles is embryonic lethal. [provided by MGI curators] |