LOCUS       HUMHEXA                 1092 bp    mRNA    linear   HUM 08-NOV-1994
DEFINITION  Human abnormal beta-hexosaminidase alpha chain (HEXA) mRNA, partial
            cds.
ACCESSION   J04178
VERSION     J04178.1
KEYWORDS    beta-hexosaminidase; hydrolase.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1092)
  AUTHORS   Ohno,K. and Suzuki,K.
  TITLE     Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a
            compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs
            disease
  JOURNAL   J. Biol. Chem. 263 (34), 18563-18567 (1988)
   PUBMED   2973464
COMMENT     Original source text: Human (infant) fibroblast cell line GM0502B,
            cDNA to mRNA, clone 9A1.
            Draft entry and computer-readable sequence for [1] kindly provided
            by K.Suzuki, 14-SEP-1988.
            The HEXA gene was isolated from an infant (Ashkenazy Jewish) with
            Tay-Sachs disease, and exhibited the following abnormalities. A
            point mutation at the exon 12-intron 12 boundary (bp 88) results in
            an incorrect splice consensus.  The result is that intron 12 is
            retained as part of the mRNA.  Also, intron 13 is polyadenylated
            after 216 bp and it too is read as part of the mRNA.
FEATURES             Location/Qualifiers
     source          1..1092
                     /db_xref="H-InvDB:HIT000191252"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /map="15q23-q24"
     gene            1..1092
                     /gene="HEXA"
     mRNA            <1..1092
                     /gene="HEXA"
                     /product="HEXA mRNA"
     misc_feature    1..1092
                     /gene="HEXA"
                     /note="abnormal beta hexosaminidase alpha-chain (EC
                     3.2.1.52); G00-120-040"
BASE COUNT          285 a          251 c          286 g          270 t
ORIGIN      Chromosome 15q23-q24.
        1 ccctgagcag aaggctctgg tgattggtgg agaggcttgt atgtggggag aatatgtgga
       61 caacacaaac ctggtcccca ggctctgcta agggttttcg ggggggaggt ggagggttgg
      121 gcctgagagc aggagttctc ccttagagac ccaatcccat ctagccacct ctggactagt
      181 acccttcttt caggcctgag agagagcagg ccgtgcaacg agccttctga agatttgtgt
      241 gcaatattca ctctccacat gacttccgtc tatatccctc cagctgccct ttggtatgtg
      301 ggatagggat tgttaacctt acttcccaga gagataatga ggcctggaga acataggtga
      361 gttgctcaag acccagcaca agcatccatg attcctgtaa taaggcttcc ctctgctgtt
      421 ttcactgcag ccttaccaag tatggttggg tgtgcaaagt ttacatttta aggacctctg
      481 ctgctgccac tgtcattgtg gttaatgatg gctttaaggt ttattcttat tcccgtatct
      541 ttgagagagg aagagagtgg gattgctacc cacattttaa tgaaggtgga gctgagccgt
      601 agaactctct gggagccatc caacctggct gtggctcata acaaggtatt gatcacttcc
      661 tttggcctga gtgagtccag ggtgcctaga caagaggtag cagcctgtgg atgtccagca
      721 cctttgcagg gaatacaggg cccaatctgg cacatgcccc ttttcctcca ggcccagagc
      781 aggggctgtt gccgaaaggc tgtggagcaa caagttgaca tctgacctga catttgccta
      841 tgaacgtttg tcacacttcc gctgtgagtt gctgaggtaa gcaagctgtg gggccttcgc
      901 aaggcggagc aggccagatc cagggctggg gaacccctta gagagaggaa gacaataatt
      961 aacaatagct aacacttaca gaggcttata gtcagccctc atccacggat tcaaccaact
     1021 gcgataaaaa gtattcagga aaaaaaaaat acaacaaaaa atggtacaaa taaaaaatac
     1081 tgtataacaa ct
//