BCKDHB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DTW, 1OLS, 1OLU, 1OLX, 1U5B, 1V11, 1V16, 1V1M, 1V1R, 1WCI, 1X7W, 1X7X, 1X7Y, 1X7Z, 1X80, 2BEU, 2BEV, 2BEW, 2BFB, 2BFC, 2BFD, 2BFE, 2BFF, 2J9F
Identifiers
Aliases	BCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-beta, branched chain keto acid dehydrogenase E1, beta polypeptide, branched chain keto acid dehydrogenase E1 subunit beta
External IDs	OMIM: 248611 MGI: 88137 HomoloGene: 39 GeneCards: BCKDHB
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q14.1 Start 80,106,647 bp[1] End 80,346,270 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 E2 Start 83,807,198 bp[2] End 84,006,293 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver rectum Achilles tendon popliteal artery body of stomach left ventricle gastric mucosa salivary gland minor salivary gland tibial nerve Top expressed in left lobe of liver brown adipose tissue white adipose tissue Epithelium of stomach myocardium of ventricle interventricular septum plantaris muscle subcutaneous adipose tissue cardiac muscles parotid gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity protein binding 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity catalytic activity Cellular component mitochondrial matrix mitochondrial alpha-ketoglutarate dehydrogenase complex mitochondrion Biological process metabolism branched-chain amino acid catabolic process response to nutrient Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 594 12040 Ensembl ENSG00000083123 ENSMUSG00000032263 UniProt P21953 Q6P3A8 RefSeq (mRNA) NM_000056 NM_183050 NM_001318975 NM_199195 NM_001305935 RefSeq (protein) NP_000047 NP_001305904 NP_898871 NP_001292864 NP_954665 Location (UCSC) Chr 6: 80.11 – 80.35 Mb Chr 9: 83.81 – 84.01 Mb PubMed search [3] [4]
Wikidata
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2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.^[5]

Function

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.^[5]