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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

HGNC Approved Gene Symbol: PDHA1. The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between …

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), …