Methylmalonyl-CoA mutase - Wikipedia
WEBMethylmalonyl-CoA mutase (EC 5.4.99.2, MCM), mitochondrial, also known as methylmalonyl-CoA isomerase, is a protein that in humans is encoded by the MUT gene. This vitamin B 12 -dependent enzyme catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA in humans.
Methylmalonyl-CoA Mutase - an overview | ScienceDirect Topics
WEBMethylmalonyl coenzyme A mutase (EC 5.4.99.2; MCM; MUT) is an enzyme which has, as its primary function, the (reversible) conversion of (R)-methylmalonyl-CoA (MM-CoA) to succinyl-CoA (see Figs. 24.1 and 24.2). The enzyme requires vitamin B 12 (5′-deoxyadenosylcobolamin; AdoCbl) as a cofactor (Fig. 24.3).
Methylmalonic acidemia (methylmalonyl-CoA mutase)
WEBMethylmalonic acidemias happen when an enzyme called methylmalonyl CoA mutase (mut) does not work correctly. This enzyme uses vitamin B-12 to help digest certain proteins, fats, and cholesterol to use them or get rid of them.
Architecture of the human G-protein-methylmalonyl-CoA mutase ...
WEBJul 19, 2023 · The G-protein, MMAA, together with MMAB, an adenosyltransferase, orchestrate cofactor delivery and repair of B12-dependent human methylmalonyl-CoA mutase (MMUT).
Methylmalonyl-CoA mutase deficiency - Wikipedia
WEBMethylmalonyl-CoA mutase catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, and uses a B12 derived prosthetic group, adenosylcobalamin, in order to accomplish this transfer. The enzyme is a homodimer, located in the mitochondrial matrix.
Guidelines for the diagnosis and management of methylmalonic acidaemia ...
WEBMar 9, 2021 · This first revision of the MMA and PA guidelines covers the same subtypes of isolated MMA and PA as before. MMA is caused by a deficiency of the methylmalonyl‐CoA mutase enzyme (MMUT), either by a direct defect of the enzyme, or by a deficient synthesis of its cofactor adenosylcobalamin.
Human B12-dependent enzymes: Methionine synthase and Methylmalonyl-CoA …
WEBHumans have only two known cobalamin or B 12-dependent enzymes: cytoplasmic methionine synthase and mitochondrial methylmalonyl-CoA mutase. A complex intracellular B 12 trafficking pathway, comprising a multitude of chaperones, process and deliver cobalamin to the two target enzymes.
Role of vitamin B12 on methylmalonyl-CoA mutase activity
WEBOct 21, 2011 · Among them, methylmalonyl-CoA mutase (MCM) has been extensively studied. This enzyme catalyzes the reversible isomerization of L-methylmalonyl-CoA to succinyl-CoA using adenosylcobalamin (AdoCbl) as a cofactor participating in the generation of radicals that allow isomerization of the substrate.
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl …
WEBJan 26, 2023 · The gene products of MMAA and MMAB convert intracellular vitamin B 12 (cobalamin, Cbl) into its cofactor form (adenosylcobalamin, AdoCbl), which is used by methylmalonyl-CoA mutase (MMUT) for...
Impaired mitophagy links mitochondrial disease to epithelial
WEBFeb 20, 2020 · Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl-coenzyme A mutase (MMUT). How MMUT deficiency triggers...