Function
Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle.
Biological Context
Subcellular Location: Mitochondrion matrix; Mitochondrion; Cytoplasm
Disease Association: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MAMM) : An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MAMM is unresponsive to vitamin B12 therapy. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Mouse anti-Human/Mouse/Rat MMUT Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →
