From: GenBank-Updates@genbank.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human branched chain alpha-keto acid dehydrogenase (BCKDHB) E1-beta
Date: 20 Aug 92 10:01:56 GMT
Distribution: bionet
Checksum: 36986     4

LOCUS       HUMBCKD01     864 bp ds-DNA             PRI       20-AUG-1992
DEFINITION  Human branched chain alpha-keto acid dehydrogenase (BCKDHB) E1-beta
            subunit gene, 5'-flanking region and exon 1.
ACCESSION   D90382
KEYWORDS    branched chain alpha-keto acid dehydrogenase;
            maple syrup urine disease.
SEGMENT     1 of 10
SOURCE      Homo sapiens adult peripheral blood DNA.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Chordata; Vertebrata; Mammalia; Theria;
            Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (bases 638 to 837)
  AUTHORS   Matsuda,I., Asaka,J., Akaboshi,I., Endo,F., Mitsubuchi,H. and
            Nobukuni,Y.
  TITLE     Maple syrup urine disease: Complete primary structure of the
            E-1-beta subunit of human branched chain alpha-ketoacid
            dehydrogenase complex deduced from the nucleotide sequence and a
            gene analysis of patients with this disease
  JOURNAL   J. Clin. Invest. 86, 242-247 (1990)
  STANDARD  simple staff_review
REFERENCE   2  (bases 1 to 864)
  AUTHORS   Mitsubuchi,H., Nobukuni,Y., Endo,F. and Matsuda,I.
  TITLE     Structural organization and chromosomal localization of the gene
            for the E-1-beta subunit of human branched chain alpha-keto acid
            dehydrogenase
  JOURNAL   J. Biol. Chem. 266, 14686-14691 (1991)
  STANDARD  full staff_review
COMMENT     These data kindly submitted in computer readable form by: Hiroshi
            Mitsubuchi Department of Pediatrics Kumamoto University Medical
            School 1-1-1 Honjo, Kumamoto 860 Japan Phone:  096-344-2111 x5654
            Fax:    096-366-3471
FEATURES             Location/Qualifiers
     exon            595..837
                     /number=1
                     /gene="BCKDHB"
     intron          838..>864
                     /number=1
                     /gene="BCKDHB"
BASE COUNT      202 a    239 c    235 g    188 t
ORIGIN      chromosome 6p22-p21
        1 ttctattcag tggatttgca ggatgaaatc taagtttacc tctttcatct ctcatttaaa
       61 tgtggaaaaa cgaaatcaat aaaaatctat atatgcttat taagcatttt aaggagggtg
      121 tgaataagga gtgaaagctt tgagcagtga ctacagcagt ttttcgaaag tcaaaacaat
      181 aaccaatgcc aatcagtagc tctcttcacc tctcacacaa taatagagac aggacaggat
      241 aaaaaagggt tacatttaaa aaaaagtatg gatgttaaac cattggaaat ggcactgtaa
      301 atgacaccgg aaaagatcgc ctccaggcac tgtgtggaac tttgcaaact cgggtcctca
      361 cccgaggacc gcacggccga cctcggggag gctccacccc agaaactatt tcattggcgc
      421 cacctctagc ccacacttcc cctcttccgc atgcgcacaa ggagcagaag ccgaccagct
      481 cgtcacgtcg ccttccccgc ccctaaattt ccagttccga ttggtctgtt tcatgggacc
      541 gcccctctgg cccgaccaat gtggaagcct cctcgggtgc tccgccctcc ccgcaggcgg
      601 cgtgcggctg catagcctga gaatcccggt ggtgagcggg gatggcggtt gtagcggcgg
      661 ctgccggctg gctactcagg ctcagggcgg caggggctga ggggcactgg cgtcggcttc
      721 ctggcgcggg gctggcgcgg ggctttttgc accccgccgc gactgtcgag gatgcggccc
      781 agaggcggca ggtggctcat tttactttcc agccagatcc ggagccccgg gagtacggtg
      841 agccctggga ctgcccactc ggtc
//