IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MUT
Definition : Molecular assay reagents intended to identify mutations in the methylmalonyl coenzyme A mutase (MUT) gene, located at chromosome 6p21, which encodes for the methylmalonyl Coenzyme A (CoA) mutase enzyme that is active in mitochondria. Methylmalonyl CoA mutase is responsible for the breakdown of isoleucine, methionine, threonine, and valine as well as lipids and cholesterol. Mutations at this locus have been identified in patients with methylmalonic acidemia (MMA).
Entry Terms : "Methylmalonic Acidemia (MMA) Gene Mutation Reagents" , "MUT Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MUT"
UMDC code : 24630