Full name: dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 6332404G05Rik; DLTA; PDC-E2

Summary: Predicted to enable dihydrolipoyllysine-residue acetyltransferase activity and identical protein binding activity. Predicted to contribute to pyruvate dehydrogenase (NAD+) activity. Predicted to be involved in acetyl-CoA biosynthetic process from pyruvate. Predicted to act upstream of or within mitochondrial acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion and myelin sheath. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in heart adult (RPKM 33.1), mammary gland adult (RPKM 17.1) and 27 other tissues

Gene size: 25148bp

Exon count: 14