PDHA1 : pyruvate dehydrogenase E1 subunit alpha 1
Description
The PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) is a protein-coding gene located on chromosome X.
The PDHA1 gene provides instructions for making a protein called E1 alpha. This protein is a subunit of a larger protein, combining with two E1 beta proteins (from the PDHB gene) to form the E1 enzyme. This enzyme, known as pyruvate dehydrogenase, is part of the pyruvate dehydrogenase complex, which plays a crucial role in converting energy from food into a form usable by cells. The complex converts pyruvate, derived from carbohydrate breakdown, into acetyl-CoA. The E1 enzyme performs a vital step in this reaction, initiating the series of chemical reactions that produce ATP, the cell's primary energy source.
The PDHA1 gene plays a vital role in cellular energy production by encoding the E1 alpha subunit of the pyruvate dehydrogenase complex. This complex catalyzes the conversion of pyruvate, a product of carbohydrate breakdown, into acetyl-CoA and CO2, effectively connecting the glycolytic pathway to the tricarboxylic acid cycle, which is central to ATP production.
PDHA1 is also known as E1alpha, PDHA, PDHAD, PDHCE1A, PHE1A.
Associated Diseases
- Pyruvate dehydrogenase e1-alpha deficiency
- Pyruvate dehydrogenase E1-alpha deficiency
- Leigh syndrome
- Pyruvate dehydrogenase deficiency
