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Literature summary for 1.2.1.104 extracted from

  • Ostergaard, E.; Moller, L.B.; Kalkanoglu-Sivri, H.S.; Dursun, A.; Kibaek, M.; Thelle, T.; Christensen, E.; Duno, M.; Wibrand, F.
    Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency (2009), J. Inherit. Metab. Dis., 32, S235-S239.
    View publication on PubMed
Search for more literature for 1.2.1.104

Protein Variants

Protein Variants Comment Organism
M153V the mutant shows decreased PDH activity in fibroblasts, around 30% of mean control Homo sapiens
additional information the in-frame deletion mutant G143del and the 65 bp duplication mutant c.900-6_958dup65 show decreased PDH activity in fibroblasts, around 16% of mean control Homo sapiens
Q206L the mutant shows decreased PDH activity in fibroblasts, around 52% of mean control Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
pyruvate + CoA + NAD+ Homo sapiens
-
 acetyl-CoA + CO2 + NADH
-
 ir

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
PDH
-
 Homo sapiens
pyruvate dehydrogenase complex
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NAD+
-
 Homo sapiens