2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene .[5]
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 betaExternal IDs OMIM : 248611 MGI : 88137 HomoloGene : 39 GeneCards : BCKDHB Wikidata
Function
edit
References
edit
Further reading
edit
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. doi :10.1016/S0021-9258(18)42179-5 . PMID 1377677 .
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. doi :10.1016/S0021-9258(18)98740-5 . PMID 1860867 .
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. doi :10.1016/0888-7543(91)90458-Q . PMID 1889817 .
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. doi :10.1172/JCI115209 . PMC 295312 . PMID 2022752 .
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. doi :10.1016/0014-5793(90)80215-5 . PMID 2335211 . S2CID 84069883 .
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. doi :10.1172/JCI114690 . PMC 296713 . PMID 2365818 .
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. doi :10.1016/0304-4165(94)90161-9 . PMID 7918575 .
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. doi :10.1016/0925-4439(93)90123-i . PMID 8161368 .
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. PMC 1915070 . PMID 8651316 .
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. doi :10.1086/323677 . PMC 1226071 . PMID 11509994 .
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 .
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. USA . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
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 .
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 .
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 . PMC 528928 . PMID 15489334 .
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 .
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 .
External links
edit