Reagents, Molecular Assay, Gene Anomaly, Mutation, HMCGL
Definition : Molecular assay reagents intended to identify mutations in the 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) (HMGCL) gene, located at chromosome 1p36.1-p35, which produces an enzyme found in the mitochondria that is involved in breaking down dietary fat and proteins. Mutations at this locus have been identified in patients with early-onset infantile hydroxymethylglutaric aciduria coenzyme A (HMG-CoA) lyase deficiency and Reye's syndrome.
Entry Terms : "HMG-CoA Lyase Deficiency Gene Mutation Detection Reagents" , "Hydroxymethylglutaricaciduria Coenzyme A (HMG-CoA) Lysase Deficiency Gene Mutation Detection Reagent" , "Organic Aciduria Gene Mutation Detection Reagents" , "Organic Acidemia Gene Mutation Detection Reagents" , "HMCGL Gene Mutation Detection Reagents"
UMDC code : 24471