BCKDHB

Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
PDB rendering based on 1dtw.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot 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
Symbols	BCKDHB ; E1B
External IDs	Template:OMIM5 Template:MGI HomoloGene: 39
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease), also known as BCKDHB, is a human gene.

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.

Further reading

• Popov KM, Zhao Y, Shimomura Y; et al. (1992). "Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases". J. Biol. Chem. 267 (19): 13127–30. PMID 1377677.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mitsubuchi H, Nobukuni Y, Endo F, Matsuda I (1991). "Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase". J. Biol. Chem. 266 (22): 14686–91. PMID 1860867.CS1 maint: Multiple names: authors list (link)
• Zneimer SM, Lau KS, Eddy RL; et al. (1991). "Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31". Genomics. 10 (3): 740–7. PMID 1889817.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nobukuni Y, Mitsubuchi H, Akaboshi I; et al. (1991). "Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease". J. Clin. Invest. 87 (5): 1862–6. PMID 2022752.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chuang JL, Cox RP, Chuang DT (1990). "Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex". FEBS Lett. 262 (2): 305–9. PMID 2335211.CS1 maint: Multiple names: authors list (link)
• Nobukuni Y, Mitsubuchi H, Endo F; et al. (1990). "Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease". J. Clin. Invest. 86 (1): 242–7. PMID 2365818.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wynn RM, Kochi H, Cox RP, Chuang DT (1994). "Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence". Biochim. Biophys. Acta. 1201 (1): 125–8. PMID 7918575.CS1 maint: Multiple names: authors list (link)
• Nobukuni Y, Mitsubuchi H, Hayashida Y; et al. (1993). "Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex". Biochim. Biophys. Acta. 1225 (1): 64–70. PMID 8161368.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chuang JL, Cox RP, Chuang DT (1996). "Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences". Am. J. Hum. Genet. 58 (6): 1373–7. PMID 8651316.CS1 maint: Multiple names: authors list (link)
• Edelmann L, Wasserstein MP, Kornreich R; et al. (2001). "Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population". Am. J. Hum. Genet. 69 (4): 863–8. PMID 11509994.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chang CF, Chou HT, Chuang JL; et al. (2002). "Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex". J. Biol. Chem. 277 (18): 15865–73. doi:10.1074/jbc.M110952200. PMID 11839747.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wynn RM, Machius M, Chuang JL; et al. (2003). "Roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site". J. Biol. Chem. 278 (44): 43402–10. doi:10.1074/jbc.M306204200. PMID 12902323.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Li J, Wynn RM, Machius M; et al. (2004). "Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase". J. Biol. Chem. 279 (31): 32968–78. doi:10.1074/jbc.M403611200. PMID 15166214.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Machius M, Wynn RM, Chuang JL; et al. (2006). "A versatile conformational switch regulates reactivity in human branched-chain alpha-ketoacid dehydrogenase". Structure. 14 (2): 287–98. doi:10.1016/j.str.2005.10.009. PMID 16472748.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Li J, Machius M, Chuang JL; et al. (2007). "The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism". J. Biol. Chem. 282 (16): 11904–13. doi:10.1074/jbc.M610843200. PMID 17329260.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)