BCKDHB

BCKDHB

Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease), also known as BCKDHB, is a human gene.cite web | title = Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=594| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=594| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Popov KM, Zhao Y, Shimomura Y, "et al." |title=Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases. |journal=J. Biol. Chem. |volume=267 |issue= 19 |pages= 13127–30 |year= 1992 |pmid= 1377677 |doi=
*cite journal | author=Mitsubuchi H, Nobukuni Y, Endo F, Matsuda I |title=Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase. |journal=J. Biol. Chem. |volume=266 |issue= 22 |pages= 14686–91 |year= 1991 |pmid= 1860867 |doi=
*cite journal | author=Zneimer SM, Lau KS, Eddy RL, "et al." |title=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. |journal=Genomics |volume=10 |issue= 3 |pages= 740–7 |year= 1991 |pmid= 1889817 |doi=
*cite journal | author=Nobukuni Y, Mitsubuchi H, Akaboshi I, "et al." |title=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. |journal=J. Clin. Invest. |volume=87 |issue= 5 |pages= 1862–6 |year= 1991 |pmid= 2022752 |doi=
*cite journal | author=Chuang JL, Cox RP, Chuang DT |title=Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex. |journal=FEBS Lett. |volume=262 |issue= 2 |pages= 305–9 |year= 1990 |pmid= 2335211 |doi=
*cite journal | author=Nobukuni Y, Mitsubuchi H, Endo F, "et al." |title=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. |journal=J. Clin. Invest. |volume=86 |issue= 1 |pages= 242–7 |year= 1990 |pmid= 2365818 |doi=
*cite journal | author=Wynn RM, Kochi H, Cox RP, Chuang DT |title=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. |journal=Biochim. Biophys. Acta |volume=1201 |issue= 1 |pages= 125–8 |year= 1994 |pmid= 7918575 |doi=
*cite journal | author=Nobukuni Y, Mitsubuchi H, Hayashida Y, "et al." |title=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. |journal=Biochim. Biophys. Acta |volume=1225 |issue= 1 |pages= 64–70 |year= 1993 |pmid= 8161368 |doi=
*cite journal | author=Chuang JL, Cox RP, Chuang DT |title=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. |journal=Am. J. Hum. Genet. |volume=58 |issue= 6 |pages= 1373–7 |year= 1996 |pmid= 8651316 |doi=
*cite journal | author=Edelmann L, Wasserstein MP, Kornreich R, "et al." |title=Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. |journal=Am. J. Hum. Genet. |volume=69 |issue= 4 |pages= 863–8 |year= 2001 |pmid= 11509994 |doi=
*cite journal | author=Chang CF, Chou HT, Chuang JL, "et al." |title=Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex. |journal=J. Biol. Chem. |volume=277 |issue= 18 |pages= 15865–73 |year= 2002 |pmid= 11839747 |doi= 10.1074/jbc.M110952200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Wynn RM, Machius M, Chuang JL, "et al." |title=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. |journal=J. Biol. Chem. |volume=278 |issue= 44 |pages= 43402–10 |year= 2003 |pmid= 12902323 |doi= 10.1074/jbc.M306204200
*cite journal | author=Li J, Wynn RM, Machius M, "et al." |title=Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase. |journal=J. Biol. Chem. |volume=279 |issue= 31 |pages= 32968–78 |year= 2004 |pmid= 15166214 |doi= 10.1074/jbc.M403611200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Machius M, Wynn RM, Chuang JL, "et al." |title=A versatile conformational switch regulates reactivity in human branched-chain alpha-ketoacid dehydrogenase. |journal=Structure |volume=14 |issue= 2 |pages= 287–98 |year= 2006 |pmid= 16472748 |doi= 10.1016/j.str.2005.10.009
*cite journal | author=Li J, Machius M, Chuang JL, "et al." |title=The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism. |journal=J. Biol. Chem. |volume=282 |issue= 16 |pages= 11904–13 |year= 2007 |pmid= 17329260 |doi= 10.1074/jbc.M610843200

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