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Literature summary for 5.4.99.2 extracted from

  • Janata, J.; Kogekar, N.; Fenton, W.A.
    Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut-phenotype: evidence for naturally occuring interallelic complementation (1997), Hum. Mol. Genet., 6, 1457-1464.
    View publication on PubMed
Search for more literature for 5.4.99.2

Cloned(Commentary)

Cloned (Comment) Organism
mutant enzymes G94V, Y231N, R369H, G623R, H678R and G717V from patients suffering from the mut-form of methylmalonic acidemia, expression in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
G623R six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein Homo sapiens
G717V six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein Homo sapiens
G94V six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein Homo sapiens
H678R six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein Homo sapiens
R369H six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein Homo sapiens
Y231N six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrial matrix
-
 Homo sapiens 5759
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
(R)-2-Methyl-3-oxopropanoyl-CoA Homo sapiens
-
 ?
-
 ?
additional information Homo sapiens this enzyme is deficient in methylmalonic acidemia ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
(R)-2-Methyl-3-oxopropanoyl-CoA
-
 Homo sapiens ?
-
 ?
(R)-2-methylmalonyl-CoA
-
 Homo sapiens succinyl-CoA
-
 ?
additional information this enzyme is deficient in methylmalonic acidemia Homo sapiens ?
-
 ?

Cofactor

Cofactor Comment Organism Structure
cobamide dependent on Homo sapiens