branched-chain keto-acid dehydrogenase E1-beta; 2-oxoisovalerate dehydrogendase-beta; BCKDH E1-beta (BCKDHB)

Function

• component of branched-chain keto acid dehydrogenase E1 & thus branched-chain alpha-keto dehydrogenase complex

Compartment

mitochondrial matrix

Pathology

• defects in BCKDHB are the cause of maple syrup urine disease type 1B

Laboratory

• BCKDHB gene mutation

More general terms

• protein subunit

Component of

• branched-chain keto acid dehydrogenase E1 or 2-oxoisovalerate dehydrogenase

Database

• UniProt: http://www.uniprot.org/uniprot/P21953.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:594
• OMIM: https://mirror.omim.org/entry/248600
• OMIM: https://mirror.omim.org/entry/248611