PDHA1

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Description

Pyruvate dehydrogenase E1 subunit alpha 1

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Citric acid cycle related proteins
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (19343893 - 19361718)

Ensembl ID

ENSG00000131828  (ver. 103.38)

Orthologs

Mouse Pdha1: ENSMUSG00000031299

UniProt

P08559

neXtProt

NX_P08559

Human splice variants
Mouse splice variants

Protein structure