BCKDHA

Branched chain keto acid dehydrogenase E1, alpha polypeptide, also known as BCKDHA, is a human gene.cite web | title = Entrez Gene: BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=593| accessdate = ]

PBB_Summary
section_title =
summary_text = 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] cite web | title = Entrez Gene: BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=593| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mitsubuchi H, Matsuda I, Nobukuni Y, "et al." |title=Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification. |journal=J. Inherit. Metab. Dis. |volume=15 |issue= 2 |pages= 181–7 |year= 1992 |pmid= 1356170 |doi=
*cite journal | author=McKean MC, Winkeler KA, Danner DJ |title=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. |journal=Biochim. Biophys. Acta |volume=1171 |issue= 1 |pages= 109–12 |year= 1992 |pmid= 1420356 |doi=
*cite journal | author=Dariush N, Fisher CW, Cox RP, Chuang DT |title=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. |journal=FEBS Lett. |volume=291 |issue= 2 |pages= 376–7 |year= 1991 |pmid= 1682165 |doi=
*cite journal | author=Eisenstein RS, Hoganson G, Miller RH, Harper AE |title=Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line. |journal=J. Inherit. Metab. Dis. |volume=14 |issue= 1 |pages= 37–44 |year= 1991 |pmid= 1861457 |doi=
*cite journal | author=Fisher CR, Fisher CW, Chuang DT, Cox RP |title=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. |journal=Am. J. Hum. Genet. |volume=49 |issue= 2 |pages= 429–34 |year= 1991 |pmid= 1867199 |doi=
*cite journal | author=Fisher CR, Chuang JL, Cox RP, "et al." |title=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. |journal=J. Clin. Invest. |volume=88 |issue= 3 |pages= 1034–7 |year= 1991 |pmid= 1885764 |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=Zhang B, Zhao Y, Harris RA, Crabb DW |title=Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. |journal=Mol. Biol. Med. |volume=8 |issue= 1 |pages= 39–47 |year= 1991 |pmid= 1943689 |doi=
*cite journal | author=Dariush N, Fisher CW, Cox RP, Chuang DT |title=Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex. |journal=FEBS Lett. |volume=284 |issue= 1 |pages= 34–8 |year= 1991 |pmid= 2060625 |doi=
*cite journal | author=Matsuda I, Nobukuni Y, Mitsubuchi H, "et al." |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=172 |issue= 2 |pages= 646–51 |year= 1990 |pmid= 2241958 |doi=
*cite journal | author=Zhang B, Edenberg HJ, Crabb DW, Harris RA |title=Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. |journal=J. Clin. Invest. |volume=83 |issue= 4 |pages= 1425–9 |year= 1989 |pmid= 2703538 |doi=
*cite journal | author=Fekete G, Plattner R, Crabb DW, "et al." |title=Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2. |journal=Cytogenet. Cell Genet. |volume=50 |issue= 4 |pages= 236–7 |year= 1989 |pmid= 2805821 |doi=
*cite journal | author=Fisher CW, Chuang JL, Griffin TA, "et al." |title=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. |journal=J. Biol. Chem. |volume=264 |issue= 6 |pages= 3448–53 |year= 1989 |pmid= 2914958 |doi=
*cite journal | author=Zhang B, Crabb DW, Harris RA |title=Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase. |journal=Gene |volume=69 |issue= 1 |pages= 159–64 |year= 1989 |pmid= 3224821 |doi=
*cite journal | author=Hu CW, Lau KS, Griffin TA, "et al." |title=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. |journal=J. Biol. Chem. |volume=263 |issue= 18 |pages= 9007–14 |year= 1988 |pmid= 3379058 |doi=
*cite journal | author=Chuang JL, Davie JR, Chinsky JM, "et al." |title=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. |journal=J. Clin. Invest. |volume=95 |issue= 3 |pages= 954–63 |year= 1995 |pmid= 7883996 |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=Chuang JL, Fisher CR, Cox RP, Chuang DT |title=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. |journal=Am. J. Hum. Genet. |volume=55 |issue= 2 |pages= 297–304 |year= 1994 |pmid= 8037208 |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=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=

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