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Literature summary for 5.4.99.2 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
Search for more literature for 5.4.99.2

Cloned(Commentary)

Cloned (Comment) Organism
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

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.
(R)-methylmalonyl-CoA Homo sapiens
-
 succinyl-CoA
-
 r

Organism

Organism UniProt Comment Textmining
Homo sapiens P22033
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
MuT
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
adenosylcobalamin dependent on Homo sapiens

General Information

General Information Comment Organism
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