Literature summary for 5.1.99.1 extracted from

Bikker, H.; Bakker, H.D.; Abeling, N.G.; Poll-The, B.T.; Kleijer, W.J.; Rosenblatt, D.S.; Waterham, H.R.; Wanders, R.J.; Duran, M.
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria (2006), Hum. Mutat., 27, 640-643.

Search for more literature for 5.1.99.1

Application

Application	Comment	Organism
medicine	point mutation in the methylmalonyl-CoA 2-epimerase gene (C139T) results in an early termination signal and causes methylmalonic aciduria in a patient	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
MCEE	-	Homo sapiens
MCEE	methylmalonyl-CoA 2-epimerase gene	Homo sapiens
methylmalonyl-CoA 2-epimerase	-	Homo sapiens
methylmalonyl-CoA epimerase	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)