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Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa)

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MSU; MSUD1; 2-Oxoisovalerate Dehydrogenase,Lipoamide; Maple Syrup Urine Disease; 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa)
CCC H485
HGNC 986
MGI 107701
PubMed 20431954
RGD 2196
UniProt P12694
Wiki BCKDHA
The second major step in the catabolism of the branched-chain amino acids, isoleucine, leucine, and valine, is catalyzed by the branched-chain alpha-keto acid dehydrogenase complex (BCKD), an inner-mitochondrial enzyme complex that consists of 3 catalytic components: a heterotetrameric (alpha2, beta2) branched-chain alpha-keto acid decarboxylase (E1), a homo-24-meric dihydrolipoyl transacylase (E2), and a homodimeric dihydrolipoamide dehydrogenase (E3).
The reaction is irreversible and constitutes the first committed step in BCAA oxidation. The complex also contains 2 regulatory enzymes, a kinase and a phosphorylase. The BCKDHA gene encodes the alpha subunit of E1, and the BCKDHB gene encodes the beta subunit of E1.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) CLIA Kit Customized Service Offer
n/a ELISA Kit for Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) 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 Alpha (BCKDHa) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) CLIA Kit Customized Service Offer
n/a ELISA Kit for Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) 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 Alpha (BCKDHa) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) CLIA Kit Customized Service Offer
n/a ELISA Kit for Branched Chain Keto Acid Dehydrogenase E1 Alpha (BCKDHa) ELISA Kit Customized Service Offer
  1. "Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex."Biochim. Biophys. Acta 1171:109-112(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and biology of human chromosome 19." Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex."J. Biol. Chem. 264:3448-3453(1989) [PubMed] [Europe PMC] [Abstract]
  6. "Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex."FEBS Lett. 284:34-38(1991) [PubMed] [Europe PMC] [Abstract]
  7. ErratumFEBS Lett. 291:376-377(1991) [PubMed] [Europe PMC] [Abstract]
  8. "Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase."Gene 69:159-164(1988) [PubMed] [Europe PMC] [Abstract]
  9. "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]
  10. "Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease."Structure 8:277-291(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex."Am. J. Hum. Genet. 55:297-304(1994) [PubMed] [Europe PMC] [Abstract]
  12. "Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease."J. Clin. Invest. 83:1425-1429(1989) [PubMed] [Europe PMC] [Abstract]
  13. "A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients."Biochem. Biophys. Res. Commun. 172:646-651(1990) [PubMed] [Europe PMC] [Abstract]
  14. "Occurrence of a Tyr393-->Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population."Am. J. Hum. Genet. 49:429-434(1991) [PubMed] [Europe PMC] [Abstract]
  15. "Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex."J. Clin. Invest. 88:1034-1037(1991) [PubMed] [Europe PMC] [Abstract]
  16. "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]
  17. "Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1-alpha locus of Hispanic-Mexican patients."J. Clin. Invest. 95:954-963(1995) [PubMed] [Europe PMC] [Abstract]
  18. "Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene."Ann. Clin. Lab. Sci. 41:167-173(2011) [PubMed] [Europe PMC] [Abstract]