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Literature summary extracted from

  • Buck, N.E.; Wood, L.R.; Hamilton, N.J.; Bennett, M.J.; Peters, H.L.
    Treatment of a methylmalonyl-CoA mutase stopcodon mutation (2012), Biochem. Biophys. Res. Commun., 427, 753-757.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
5.4.99.2 expression of the enzyme gene carrying a stop-codon mutation in mouse primary fibroblast cell lines, effects of gentamicin and PTC124 for stop-codon read-through potential, overview. Without treatment the cells contain 19% of the normal levels of methylmalonyl-CoA mutase enzyme activity which increases to 32% with treatment, suggesting a functional improvement. Treatment with PTC124 increases the amount of human methylmalonyl-CoA mutase gene mRNA by 1.6fold Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5.4.99.2 (R)-methylmalonyl-CoA Homo sapiens
-
 succinyl-CoA
-
 r

Organism

EC Number Organism UniProt Comment Textmining
5.4.99.2 Homo sapiens P22033
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5.4.99.2 (R)-methylmalonyl-CoA
-
 Homo sapiens succinyl-CoA
-
 r

Synonyms

EC Number Synonyms Comment Organism
5.4.99.2 MuT
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
5.4.99.2 adenosylcobalamin dependent on Homo sapiens

General Information

EC Number General Information Comment Organism
5.4.99.2 malfunction metabolic disorder methylmalonic aciduria can be caused by nonsense mutations within the methylmalonyl-CoA mutase gene, resulting in the production of a truncated protein with little or no catalytic activity Homo sapiens