Recombinant Human Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial (PDHA1), Truncated

Uniprot Id

P08559

Target Species

Human

Target Name

PDHA1

Target Full Name

Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial

Target Function

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Target Involvement

Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)

Target Subcellular Location

Mitochondrion matrix.

Target Tissue Specificity

Ubiquitous.

Target Research Area

Metabolism

Target Synonyms

ODPA_HUMAN; PDH; PDHA; PDHA1; PDHCE1A; PDHE1 A type I ; PDHE1-A type I; PHE1A; Pyruvate Dehydrogenase (lipoamide) alpha 1; Pyruvate dehydrogenase complex, E1 alpha polypeptide 1; Pyruvate Dehydrogenase E1 alpha; Pyruvate dehydrogenase E1 component subunit alpha; Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial

Target Background

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.