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Literature summary for 6.4.1.1 extracted from

  • Carbone, M.A.; Robinson, B.H.
    Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer (2003), Biochem. J., 370, 275-282.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 6.4.1.1

Application

Application Comment Organism
medicine A610T mtation leads to type A pyruvate carboxylase deficiency, no import of the enzyme into mitochondria Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression in type B pyruvate decarboxylase deficient skin fibroblasts Homo sapiens

Protein Variants

Protein Variants Comment Organism
A610T reduced enzyme activity, no import of the enzyme into mitochondria Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.08
-
 pyruvate wild-type enzyme after retroviral expression Homo sapiens
0.12
-
 pyruvate A610T mutant after retroviral expression Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + pyruvate + HCO3- Homo sapiens
-
 ADP + phosphate + oxaloacetate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + pyruvate + HCO3-
-
 Homo sapiens ADP + phosphate + oxaloacetate
-
 ?