LOCUS       HSU66035                1169 bp    mRNA    linear   HUM 08-MAY-1998
DEFINITION  Human X-linked deafness dystonia protein (DDP) mRNA, complete cds.
ACCESSION   U66035
VERSION     U66035.1
KEYWORDS    .
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 1169)
  AUTHORS   Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J.,
            Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R.,
            Schwartz,C. and Vetrie,D.
  TITLE     A novel X-linked gene, DDP, shows mutations in families with
            deafness (DFN-1), dystonia, mental deficiency and blindness
  JOURNAL   Nat. Genet. 14 (2), 177-180 (1996)
   PUBMED   8841189
REFERENCE   2  (bases 1 to 1169)
  AUTHORS   Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J.,
            Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R.,
            Schwartz,C. and Vetrie,D.
  TITLE     Direct Submission
  JOURNAL   Submitted (05-AUG-1996) Division of Medical and Molecular Genetics,
            UMDS, Guy's Hospital, London SE19RT, UK
FEATURES             Location/Qualifiers
     source          1..1169
                     /db_xref="H-InvDB:HIT000220895"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22"
     gene            1..1169
                     /gene="DDP"
     CDS             36..329
                     /gene="DDP"
                     /codon_start=1
                     /product="X-linked deafness dystonia protein"
                     /protein_id="AAC15946.1"
                     /translation="MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCW
                     EKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD"
BASE COUNT          334 a          213 c          267 g          354 t
ORIGIN      
        1 gcggagttcg tctctgcaag cttggtcgcc ctgggatgga ttcctcctcc tcttcctccg
       61 cggcgggttt gggtgcagtg gacccacagt tgcagcattt catcgaggta gagactcaaa
      121 agcagcgctt ccagcagctg gtgcaccaga tgactgaact ttgttgggag aagtgcatgg
      181 acaagcctgg gccaaagttg gacagtcggg ctgaggcctg ttttgtgaac tgcgttgagc
      241 gcttcattga tacaagccag ttcatcttga atcgactgga acagacccag aaatccaagc
      301 cagttttctc agaaagcctt tctgactgat ctcagcatta cctctttgga aaaggaaggt
      361 agttcaagaa atgaagagct gttgatggga tgattgaaga aacagctatg agaggattgg
      421 ctcccatctt ttgttactct tgggacatcc tgtcatctga gaatgaacaa agaccaattt
      481 tttgtgtgtg aagcttaagg gtcatatgtt tgcttgtatt ttttaatgct aatcttgtga
      541 aaataattga caggcgaaag aaaactctat ttagatgcat attactgtac atgggactat
      601 gcttttctca aagccccatt aactgcttcc tataattttg atagtgggac cacatacgta
      661 aaaatctctc atttgtgtgg agtcatttct gatttcaggg gagatccttg tgtttatcag
      721 aaagggcaga agtaggggaa gaataatttg gtatccttat ctagtgtttg attgtcaatg
      781 ctggagaaaa atatctgtaa gagtgtttat acagtacact tcagttatct tgatctccct
      841 ttcctatatg atgatttgct taaatatcca tattaagtaa gtctcaaggt agggtaggca
      901 gcctgagagt ctagaggcct ttagttataa aggaatctag ccagtgaaca taattcttat
      961 tactagactg ccacaaggaa gaaattaact taccctgtat atcagggtac aaaaaattca
     1021 gtgatgtgcc taaataagtt ataaagattt aggccaatca gaagctaaca gcagtttcag
     1081 gtagaggtgc atgcctaatg ttagttagtg tagattccat ttactgcatt cttctgatca
     1141 ctgaaataaa agctatataa gattcatan
//