branched-chain keto-acid dehydrogenase E1-alpha; 2-oxoisovalerate dehydrogendase-alpha; BCKDH E1-alpha (BCKDE1A, BCKDHA)

Function

• component of branched-chain keto acid dehydrogenase E1 & thus branched-chain alpha-keto dehydrogenase complex
• activity of branched-chain keto-acid dehydrogenase complex regulated by phosphorylation of E1-alpha subunit

Cofactor:

• thiamine pyrophosphate
• K+ binding stabilizes protein structure

Compartment

mitochondrial matrix

Pathology

• defects in BCKDHA are a cause of maple syrup urine disease type 1A

More general terms

• protein subunit
• phosphoprotein

Component of

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

Database

• UniProt: http://www.uniprot.org/uniprot/P12694.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:593
• OMIM: https://mirror.omim.org/entry/248600
• OMIM: https://mirror.omim.org/entry/608348