5.1.99.1 analysis a simple direct assay for DL-methylmalonyl-coenzyme A racemase which is based on the fact that the proton on C-2 of methylmalonyl-CoA is replaced by a proton in the medium during racemization 2434 5.1.99.1 medicine as model to study human methylmalonic aciduria, deletion of the mce gene results in a 80% decreased incorporation of propionate into macromolecules and induces an accumulation of methylmalonic acid 676032 5.1.99.1 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 676026 5.1.99.1 medicine point mutation in the methylmalonyl-CoA 2-epimerase gene (C139T) results in an early termination signal and causes methylmalonic aciduria in a patient 673947 5.1.99.1 synthesis production of polyketides like myxothiazol requiring methylmalonyl-CoA as an extender unit 673023 5.1.99.1 synthesis recombinant methylmalonyl-CoA epimerase enables biocatalytic epimerisation of C-2 methyl- and ethylmalonyl-CoA. When coupled with variant carboxymethylproline synthase CarB and crotonyl-CoA carboxylase reductase, the methylmalonyl-CoA epimerase forms part of a three-enzyme, one-pot procedure for the production of functionalised C-5 carboxyalkylprolines from crotonyl-CoA, carbon dioxide and L-glutamate semialdehyde/5-hydroxyproline/pyrroline-5-carboxylate 747542