LOCUS       AAA98508.1               210 aa    PRT              HUM 10-JUN-2016
DEFINITION  Homo sapiens frataxin protein.
ACCESSION   AH003505-2
PROTEIN_ID  AAA98508.1
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 5589)
  AUTHORS   Campuzano,V., Montermini,L., Molto',M.D., Pianese,L., Cossee',M.,
            Cavalcanti,F., Monros,E., Rodius,F., Duclos,F., Monticelli,A.,
            Zara,F., Canizares,J., Koutnikova,H., Bidichandani,S., Gellera,C.,
            Brice,A., Trouillas,P., De Michele,G., Filla,A., De Frutos,R.,
            Palau,F., Patel,P.I., Di Donato,S., Mandel,J.-L., Cocozza,S.,
            Koenig,M. and Pandolfo,M.
  TITLE     Friedreich's ataxia: autosomal recessive disease caused by an
            intronic GAA triplet repeat expansion
  JOURNAL   Science 271 (5254), 1423-1427 (1996)
   PUBMED   8596916
REFERENCE   2  (bases 1 to 5589)
  AUTHORS   Koenig,M. and Pandolfo,M.
  TITLE     Direct Submission
  JOURNAL   Submitted (21-DEC-1995) Massimo Pandolfo, Neurology-NB424, Baylor
            College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
COMMENT     On or before Jun 10, 2016 this sequence version replaced U43748.1,
            U43749.1, U43750.1, U43751.1, U43752.1, U43753.1, AH003505.1.
FEATURES             Qualifiers
     source          /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q13"
     protein         /gene="FRDA"
                     /note="Friedreich's ataxia protein; uses alternative exon
                     5a"
     intron_pos      56:0 (1/4)
     intron_pos      88:2 (2/4)
     intron_pos      129:0 (3/4)
     intron_pos      161:2 (4/4)
BEGIN
        1 MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
       61 GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
      121 EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVFSHDGV
      181 SLHELLAAEL TKALKTKLDL SWLAYSGKDA
//