Literature summary for 5.1.99.1 extracted from

Dobson, C.M.; Gradinger, A.; Longo, N.; Wu, X.; Leclerc, D.; Lerner-Ellis, J.; Lemieux, M.; Belair, C.; Watkins, D.; Rosenblatt, D.S.; Gravel, R.A.
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria (2006), Mol. Genet. Metab., 88, 327-333.

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Application

Application	Comment	Organism
medicine	point mutation in the methylmalonyl-CoA 2-epimerase gene (C139T) and an insertion polymorphism 41-160-161insT causes methylmalonic aciduria in patients, inhibition of the enzyme by siRNAs in HeLa cells reduces the synthesis of macromolecules	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q96PE7	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
(R)-methylmalonyl-CoA	-	Homo sapiens	(S)-methylmalonyl-CoA	-	?

Synonyms

Synonyms	Comment	Organism
MCE	-	Homo sapiens
methylmalonyl-CoA 2-epimerase	-	Homo sapiens
methylmalonyl-CoA 2-racemase	-	Homo sapiens
methylmalonyl-CoA epimerase	-	Homo sapiens

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Release 2023.1 (January 2023)