IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MMAB
Definition : Molecular assay reagents intended to identify mutations in the methylmalonic aciduria (cobalamin deficiency) type B (MMAB) gene, located at chromosome 12q24, which encodes for a protein involved in the formation of adenosylcobalamin, required for methylmalonyl CoA mutase to break down certain proteins, fats, and cholesterol. Mutations at this locus have been identified in patients with early-onset methylmalonic acidemia (MMA).
Entry Terms : "Vitamin B12-Responsive Methylmalonic Acidemia Gene Mutation Reagents" , "Methylmalonic Acidemia (MMA) Gene Mutation Reagents" , "MMAB Gene Mutattion Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MMAB"
UMDC code : 24610