Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PCCB

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PCCB

Definition : Molecular assay reagents intended to identify mutations in the propionyl Coenzyme A carboxylase, beta polypeptide (PCCB) gene, located at chromosome 3q21-q22, which encodes for the beta subunit of the enzyme propionyl-CoA carboxylase that is involved in the normal processing of proteins. Mutations at this locus have been identified in patients with propionic acidemia and early-onset organic aciduria.

Entry Terms : "Aciduria Gene Mutation Reagents" , "Acidemia Gene Mutation Reagents" , "Propionic Acidemia Gene Mutation Reagents" , "PCCB Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PCCB"

UMDC code : 24656

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