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Immunogen sequence: CDLHRLEEG PPVTTVLTRE DGLKYYRMMQ TVRRMELKAD QLYKQKIIRG FCHLCDGQEA CCVGLEAGIN PTDHLITAYR AHGFTFTRGL SVREILAELT GRKGGCAKGK GGSMHMYAKN FYGGNGIVGA QVPLGAGIAL ACKYNGKDEV CLTLYGDGAA NQGQIFEAYN MAALWKLPCI FICENNRYGM GTSVERAAAS TDYYKRGDFI PGLRVDGMDI LCVREATRFA AAYCRSGKGP ILMELQTYRY HGHSMSDPGV SYRTREEIQE VRSKSDPIML LKDRMVNSNL ASVEELKEID VEVRKEIEDA AQFATADPEP PLEELGYHIY SSDPPFEVRG ANQWIKFKSV S (41-390 aa encoded by BC002406)
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.
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蛋白别名: PDHE1-A type I; pyruvate dehydrogenase; pyruvate dehydrogenase complex, E1-alpha polypeptide 1; Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; pyruvate dehydrogenase E1 subunit
基因别名: PDHA; PDHA1; PDHAD; PDHCE1A; PHE1A
UniProt ID: (Human) P08559
Entrez Gene ID: (Human) 5160
分子生物学功能: dehydrogenase