title: Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex.
abstract: We have isolated a cDNA encoding the E1b-beta subunit of the human branched-chain alpha-keto acid dehydrogenase complex. The human E1b-beta cDNA is 1401 base pairs in length. It encodes the entire mature E1b-beta subunit consisting of 342 amino acid residues, and a mitochondrial targeting presequence of 31 residues. The calculated molecular mass of the mature human E1b-beta subunit is 37,851 Da, and the calculated isoelectric point is pH 5.18. A hydropathy plot shows that the human E1b-beta subunit is highly hydrophobic. Northern blot analysis shows that the human E1b-beta mRNA is approximately 1.4 kb in size. It is present at the normal level in fibroblasts from two unrelated maple syrup urine disease patients.
authors.affiliation: Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.
authors.forename: J L
authors.initials: JL
authors.lastname: Chuang
authors.forename: R P
authors.initials: RP
authors.lastname: Cox
authors.forename: D T
authors.initials: DT
authors.lastname: Chuang
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D000595:Amino Acid Sequence; D001483:Base Sequence; D002478:Cells, Cultured; D003001:Cloning, Molecular; D004274:DNA, Recombinant / Q000032:analysis; D006801:Humans; D007658:Ketone Oxidoreductases / Q000235:genetics*; D008099:Liver / Q000201:enzymology / Q000378:metabolism; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D011487:Protein Conformation; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D004274:DNA, Recombinant; D009097:Multienzyme Complexes; D012333:RNA, Messenger; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)