The PDH complex is composed of multiple copies of 3 enzymes: E1 (PDHA1); dihydrolipoyl transacetylase (E2; EC 2.3.1.12); and dihydrolipoyl dehydrogenase (E3; EC 1.8.1.4). The E1 …

Apr 13, 2025 · 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 …

Mar 30, 2025 · PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1) is a Protein Coding gene. Diseases associated with PDHA1 include Pyruvate Dehydrogenase E1-Alpha Deficiency and …

Pyruvate dehydrogenase deficiency is characterized by a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological …

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

Recent studies have proposed that pyruvate dehydrogenase E1 component subunit alpha (PDHA1), a cuproptosis-key gene, is crucial to the glucose metabolism reprogram of tumor …

Pyruvate dehydrogenase (PDH) enzyme is a complex made of three components: E1, E2, and E3 (Fig. 15.1.1). E1 is made of two subunits: E1α and E1β. The E1 unit catalyzes decarboxylation …

Jun 20, 2023 · Pyruvate Dehydrogenase E1-alpha subunit (PDHA1) is the most frequent form of PDC deficiency, compromising 76–85% of PDC deficiency. More than 200 PDHAD patients …

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. …

Aug 8, 2022 · Recent studies have proposed that pyruvate dehydrogenase E1 component subunit alpha (PDHA1), a cuproptosis-key gene, is crucial to the glucose metabolism reprogram of …