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Literature summary for 1.2.4.1 extracted from

  • Joao Silva, M.; Pinheiro, A.; Eusebio, F.; Gaspar, A.; Tavares de Almeida, I.; Rivera, I.
    Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation (2009), Eur. J. Pediatr., 168, 17-22.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
R253G the mutation is associated with low PDHc activity and absence of subunit alpha of pyruvate dehydrogenase E1 Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
peripheral blood mononuclear cell
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
pyruvate + CoA + NAD+
-
Homo sapiens acetyl-CoA + CO2 + NADH
-
?

Synonyms

Synonyms Comment Organism
PDHa subunit alpha of pyruvate dehydrogenase E1 Homo sapiens
PDHC
-
Homo sapiens
pyruvate dehydrogenase complex
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NAD+
-
Homo sapiens