PDHA1

Name

pyruvate dehydrogenase E1 subunit alpha 1

Type

protein-coding

Chromosome

X

Position

19,343,893–19,361,718 (+)

Aliases

E1alpha, PDHA, PDHAD, PDHCE1A, PHE1A

Ensembl

ENSG00000131828

RefSeq RNA

NM_000284.4, NM_001173454.2, NM_001173455.2, NM_001173456.2, XM_017029574.3

RefSeq protein

NP_000275.1, NP_001166925.1, NP_001166926.1, NP_001166927.1, XP_016885063.1

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].

via MyGene.info

Gene · Ensembl

pyruvate dehydrogenase E1 subunit alpha 1

Symbol

PDHA1

Biotype

Protein coding

Organism

Homo sapiens

Location

Chr X:19,343,893-19,361,718

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein PDHA1 PDB 1ni4.png

via Wikidata · CC0