Pdha1 - pyruvate dehydrogenase E1 subunit alpha 1

Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Part of pyruvate dehydrogenase complex. Used to study pyruvate decarboxylase deficiency. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1). [provided by Alliance of Genome Resources, Apr 2022]