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Branched chain keto acid dehydrogenase E1, beta polypeptide
Protein BCKDHB PDB 1dtw.png
PDB rendering based on 1dtw.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols BCKDHB ; E1B; dJ279A18.1
External IDs OMIM248611 MGI88137 HomoloGene39 GeneCards: BCKDHB Gene
EC number
RNA expression pattern
PBB GE BCKDHB 210653 s at tn.png
PBB GE BCKDHB 213321 at tn.png
More reference expression data
Species Human Mouse
Entrez 594 12040
Ensembl ENSG00000083123 ENSMUSG00000032263
UniProt P21953 Q6P3A8
RefSeq (mRNA) NM_000056 NM_199195
RefSeq (protein) NP_000047 NP_954665
Location (UCSC) Chr 6:
80.82 – 81.06 Mb
Chr 9:
83.93 – 84.12 Mb
PubMed search [1] [2]

2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.[1]


Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2), and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B. Alternative splicing at this locus results in transcript variants with different 3' noncoding regions, but encoding the same isoform.[1]


Further reading[edit]