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Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb)

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E1B; Maple Syrup Urine Disease; 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb)
CCC H484
HGNC 987
MGI 88137
PubMed 22593002
RGD 2197
UniProt P21953
Wiki BCKDHB
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).
BCKDHb encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Branched Chain Keto Acid Dehydrogenase E1 Beta (BCKDHb) ELISA Kit Customized Service Offer
  1. "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. 86:242-247(1990) [PubMed] [Europe PMC] [Abstract]
  2. "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. 58:1373-1377(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex."FEBS Lett. 262:305-309(1990) [PubMed] [Europe PMC] [Abstract]
  7. "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 1201:125-128(1994) [PubMed] [Europe PMC] [Abstract]
  8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  11. "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 1225:64-70(1993) [PubMed] [Europe PMC] [Abstract]
  12. "Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population."Am. J. Hum. Genet. 69:863-868(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)."Gene 498:112-115(2012) [PubMed] [Europe PMC] [Abstract]