Primary Identifier | MGI:97532 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 18597 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pyruvate dehydrogenase (NAD+) activity. Acts upstream of or within acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Part of catalytic complex. Is expressed in several structures, including alimentary system; brain; heart ventricle; metanephros; and sensory organ. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1). PHENOTYPE: Mice homozygous for a knock-out allele die by E12.5. [provided by MGI curators] |