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HMDB Protein ID HMDBP00046
Secondary Accession Numbers
  • 5275
Name Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
  1. PDHE1-A type I
Gene Name PDHA1
Protein Type Enzyme
Biological Properties
General Function Involved in oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
Specific Function The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.
  • 2-ketoglutarate dehydrogenase complex deficiency
  • Butanoate metabolism
  • Citrate cycle (TCA cycle)
  • Citric Acid Cycle
  • Congenital lactic acidosis
  • Fumarase deficiency
  • Glutaminolysis and Cancer
  • Glycolysis / Gluconeogenesis
  • HIF-1 signaling pathway
  • Leigh Syndrome
  • Mitochondrial complex II deficiency
  • Primary hyperoxaluria II, PH2
  • Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency)
  • Pyruvate Dehydrogenase Complex Deficiency
  • Pyruvate dehydrogenase deficiency (E2)
  • Pyruvate dehydrogenase deficiency (E3)
  • Pyruvate kinase deficiency
  • Pyruvate Metabolism
  • Pyruvate metabolism
  • The oncogenic action of 2-hydroxyglutarate
  • The oncogenic action of D-2-hydroxyglutarate in Hydroxygluaricaciduria
  • The Oncogenic Action of Fumarate
  • The oncogenic action of L-2-hydroxyglutarate in Hydroxygluaricaciduria
  • The Oncogenic Action of Succinate
  • Transfer of Acetyl Groups into Mitochondria
  • Warburg Effect
Pyruvic acid + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine → [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2) details
Pyruvic acid + Thiamine pyrophosphate → 2-(a-Hydroxyethyl)thiamine diphosphate + Carbon dioxide details
Pyruvic acid + Enzyme N6-(lipoyl)lysine → [Dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + Carbon dioxide details
2-(a-Hydroxyethyl)thiamine diphosphate + Enzyme N6-(lipoyl)lysine → [Dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + Thiamine pyrophosphate details
Coenzyme A + NAD + Pyruvic acid → Carbon dioxide + Hydrogen Ion + NADH + Acetyl-CoA details
GO Classification
Biological Process
regulation of acetyl-CoA biosynthetic process from pyruvate
tricarboxylic acid cycle
acetyl-CoA biosynthetic process from pyruvate
Cellular Component
mitochondrial matrix
pyruvate dehydrogenase complex
membrane-bounded organelle
intracellular membrane-bounded organelle
catalytic activity
oxidoreductase activity
pyruvate dehydrogenase activity
pyruvate dehydrogenase (acetyl-transferring) activity
oxidoreductase activity, acting on the aldehyde or oxo group of donors
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
Molecular Function
pyruvate dehydrogenase (acetyl-transferring) activity
pyruvate dehydrogenase activity
metabolic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
glucose metabolic process
oxidation reduction
glucose catabolic process
Cellular Location
  1. Mitochondrion matrix
Gene Properties
Chromosome Location X
Locus Xp22.1
Gene Sequence
>1173 bp
Protein Properties
Number of Residues 390
Molecular Weight 43295.255
Theoretical pI 8.063
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P08559
UniProtKB/Swiss-Prot Entry Name ODPA_HUMAN
GenBank Gene ID M24848
GeneCard ID PDHA1
GenAtlas ID PDHA1
General References
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  30. Hansen LL, Horn N, Dahl HH, Kruse TA: Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. Hum Mol Genet. 1994 Jun;3(6):1021-2. [PubMed:7545958 ]
  31. Dahl HH, Brown GK: Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. Hum Mutat. 1994;3(2):152-5. [PubMed:8199595 ]
  32. Awata H, Endo F, Tanoue A, Kitano A, Matsuda I: Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia. J Inherit Metab Dis. 1994;17(2):189-95. [PubMed:7967473 ]
  33. Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH: Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet. 1995 Mar;56(3):558-69. [PubMed:7887409 ]
  34. Takakubo F, Cartwright P, Hoogenraad N, Thorburn DR, Collins F, Lithgow T, Dahl HH: An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. Am J Hum Genet. 1995 Oct;57(4):772-80. [PubMed:7573035 ]
  35. Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS: Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. Hum Mol Genet. 1995 Feb;4(2):315-8. [PubMed:7757088 ]
  36. Lissens W, De Meirleir L, Seneca S, Benelli C, Marsac C, Poll-The BT, Briones P, Ruitenbeek W, van Diggelen O, Chaigne D, Ramaekers V, Liebaers I: Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat. 1996;7(1):46-51. [PubMed:8664900 ]
  37. Tripatara A, Kerr DS, Lusk MM, Kolli M, Tan J, Patel MS: Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS). Hum Mutat. 1996;8(2):180-2. [PubMed:8844217 ]
  38. Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y: Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. J Inherit Metab Dis. 1997 Aug;20(4):539-48. [PubMed:9266390 ]
  39. Otero LJ, Brown RM, Brown GK: Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity. Hum Mutat. 1998;12(2):114-21. [PubMed:9671272 ]