BCKDHA

Branched chain keto acid dehydrogenase E1, alpha polypeptide
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	BCKDHA ; FLJ45695; MSU; MSUD1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 569
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO 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 Template:GNF GO
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, alpha polypeptide, also known as BCKDHA, is a human gene.

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; EC 1.2.4.4), 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; MIM 248610), and a homodimeric dihydrolipoamide dehydrogenase (E3; MIM 238331). 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 (MIM 248611) encodes the beta subunit of E1.[supplied by OMIM]

Further reading

• Mitsubuchi H, Matsuda I, Nobukuni Y; et al. (1992). "Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification". J. Inherit. Metab. Dis. 15 (2): 181–7. PMID 1356170.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McKean MC, Winkeler KA, Danner DJ (1992). "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 (1): 109–12. PMID 1420356.CS1 maint: Multiple names: authors list (link)
• Dariush N, Fisher CW, Cox RP, Chuang DT (1991). "Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex (1991) FEBS Letters 284, 34-38". FEBS Lett. 291 (2): 376–7. PMID 1682165.CS1 maint: Multiple names: authors list (link)
• Eisenstein RS, Hoganson G, Miller RH, Harper AE (1991). "Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line". J. Inherit. Metab. Dis. 14 (1): 37–44. PMID 1861457.CS1 maint: Multiple names: authors list (link)
• Fisher CR, Fisher CW, Chuang DT, Cox RP (1991). "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 (2): 429–34. PMID 1867199.CS1 maint: Multiple names: authors list (link)
• Fisher CR, Chuang JL, Cox RP; et al. (1991). "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 (3): 1034–7. PMID 1885764.CS1 maint: Explicit use of et al. (link) 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)
• Zhang B, Zhao Y, Harris RA, Crabb DW (1991). "Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease". Mol. Biol. Med. 8 (1): 39–47. PMID 1943689.CS1 maint: Multiple names: authors list (link)
• Dariush N, Fisher CW, Cox RP, Chuang DT (1991). "Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex". FEBS Lett. 284 (1): 34–8. PMID 2060625.CS1 maint: Multiple names: authors list (link)
• Matsuda I, Nobukuni Y, Mitsubuchi H; et al. (1990). "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 (2): 646–51. PMID 2241958.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang B, Edenberg HJ, Crabb DW, Harris RA (1989). "Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease". J. Clin. Invest. 83 (4): 1425–9. PMID 2703538.CS1 maint: Multiple names: authors list (link)
• Fekete G, Plattner R, Crabb DW; et al. (1989). "Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2". Cytogenet. Cell Genet. 50 (4): 236–7. PMID 2805821.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fisher CW, Chuang JL, Griffin TA; et al. (1989). "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 (6): 3448–53. PMID 2914958.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang B, Crabb DW, Harris RA (1989). "Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase". Gene. 69 (1): 159–64. PMID 3224821.CS1 maint: Multiple names: authors list (link)
• Hu CW, Lau KS, Griffin TA; et al. (1988). "Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells". J. Biol. Chem. 263 (18): 9007–14. PMID 3379058.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chuang JL, Davie JR, Chinsky JM; et al. (1995). "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 (3): 954–63. PMID 7883996.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)
• Chuang JL, Fisher CR, Cox RP, Chuang DT (1994). "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 (2): 297–304. PMID 8037208.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)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)