Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, BCKDHB

Reagents, Molecular Assay, Gene Anomaly, Mutation, BCKDHB

Definition : Molecular assay reagents intended to identify mutations in the branched-chain keto-acid dehydrogenase E1, beta polypeptide (BCKDHB) gene, located at chromosome 6q13-q15, which encodes for the E1-beta subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex. This enzyme is responsible for one step in the breakdown of three amino acids: leucine, isoleucine, and valine; the breakdown products of these amino acids are used for energy. Mutations at this locus have been identified in patients with early-onset maple syrup urine disease (MSUD).

Entry Terms : "Maple Syrup Urine Disease (MSUD) Type IB Gene Mutation Detection Reagents" , "Acidemia Gene Mutation Detection Reagents" , "Organic Aciduria Gene Mutation Detection Reagents" , "Organic Acidemia Gene Mutation Detection Reagents" , "Aciduria Gene Mutation Detection Reagents" , "BCKDHB Gene Mutation Detection Reagents"

UMDC code : 24313

   

1-30 of 32 Match(es).

 1 2 > 

Applied Biosystems

Our newly expanded portfolio of market-leading lab services can provide your high-performance lab with a comprehensive suite of services, or just the ones you want. From business consulting and protocol development, to instrument repair and optimization, our services can help you increase your lab's productivity and efficiency.

Applied Biosystems (Argentina)

Applied Biosystems (Argentina)

Applied Biosystems (Australia)

Applied Biosystems (Australia)

Applied Biosystems (Austria)

Applied Biosystems (Austria)

Applied Biosystems (Belgium)

Applied Biosystems (Belgium)

Applied Biosystems (Canada)

Applied Biosystems (Canada)

Applied Biosystems (China)

Applied Biosystems (China)

Applied Biosystems (Czech Republic)

Applied Biosystems (Czech Republic)

Applied Biosystems (Denmark)

Applied Biosystems (Denmark)

Applied Biosystems (Finland)

Applied Biosystems (Finland)

Applied Biosystems (France)

Applied Biosystems (France)

Applied Biosystems (Italy)

Applied Biosystems (Italy)

Applied Biosystems (Korea)

Applied Biosystems (Korea)

Applied Biosystems (Norway)

Applied Biosystems (Norway)

Applied Biosystems (Poland)

Applied Biosystems (Poland)

Applied Biosystems (Portugal)

Applied Biosystems (Portugal)

Applied Biosystems (Russia)

Applied Biosystems (Russia)

Applied Biosystems (South Africa)

Applied Biosystems (South Africa)

Applied Biosystems (Spain)

Applied Biosystems (Spain)

Applied Biosystems (Sweden)

Applied Biosystems (Sweden)

Applied Biosystems (Switzerland)

Applied Biosystems (Switzerland)

Applied Biosystems (Taiwan)

Applied Biosystems (Taiwan)

Applied Biosystems (Thailand) Ltd

Applied Biosystems (Thailand) Ltd

Applied Biosystems (The Netherlands)

Applied Biosystems (The Netherlands)

Applied Biosystems Asia Pte Ltd

Applied Biosystems Asia Pte Ltd

Applied Biosystems de Mexico

Applied Biosystems de Mexico

Applied Biosystems Deutschland GmbH

Applied Biosystems Deutschland GmbH

Applied Biosystems do Brazil

Applied Biosystems do Brazil

Applied Biosystems Hong Kong Ltd

Applied Biosystems Hong Kong Ltd

Applied Biosystems Japan Ltd

Applied Biosystems Japan Ltd

1-30 of 32 Match(es).

 1 2 >