The PDH complex is composed of multiple copies of 3 enzymes: E1 (PDHA1); dihydrolipoyl transacetylase (DLAT) (E2; EC 2.3.1.12); and dihydrolipoyl dehydrogenase (DLD) (E3; EC 1.8.1.4). The E1 enzyme is a heterotetramer of 2 alpha and 2 beta subunits.

2024年12月25日 · PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1) is a Protein Coding gene. Diseases associated with PDHA1 include Pyruvate Dehydrogenase E1-Alpha Deficiency and Sudden Infant Death Syndrome. Among its related pathways are Regulation of pyruvate metabolism and glycolysis (BioCyc).

The PDHA1 gene provides instructions for making a protein called E1 alpha. The E1 alpha protein is a piece (a subunit) of a larger protein: two E1 alpha proteins combine with two copies of another protein called E1 beta (produced from the PDHB gene) to form the E1 enzyme.

2021年6月17日 · Primary pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation that mostly affects the brain and leads to decreased ATP production and energy deficit.

2021年6月14日 · PDCD is most commonly caused by abnormalities in the gene that encodes the E1 alpha subunit, E1-alpha subunit pyruvate dehydrogenase gene or PDHA1. There are many different abnormalities in the PDHA1 gene, also called PDHA1 variants, which are known to …

The most common form of PDC deficiency is caused by genetic changes (genetic changes or pathogenic variants) in the PDHA1 gene. These pathogenic variants are inherited in an X-linked manner. Pathogenic variants in other genes including PDHB, DLAT, PDHX, DLD, and PDP1 can also cause PDC deficiency.

PDHA1 (P = 0.025) was an independent predictor of overall survival in gastric cancer PDHc E1 mutation i9s associated with Pyruvate dehydrogenase complex deficiency. Case demonstrates fetal akinesia deformation sequence due to a de novo hemizygous c.498C > T splice-site mutation in the pyruvate dehydrogenase-alpha 1 (PDHA1) gene.

2025年1月4日 · Clinical resource with information about PDHA1, Pyruvate dehydrogenase E1-alpha deficiency, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

HGNC Approved Gene Symbol: PDHA1. The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA.

2018年1月15日 · Here, we found that genetic and pharmacological inactivation of pyruvate dehydrogenase A1 (PDHA1), a subunit of the pyruvate dehydrogenase complex (PDC), inhibits prostate cancer...