LOCUS       AAB87865.1               175 aa    PRT              HUM 02-DEC-1997
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase 18 kDa IP
            subunit protein.
ACCESSION   AF020351-1
PROTEIN_ID  AAB87865.1
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 668)
  AUTHORS   Van Den Heuvel,L., Ruitenbeek,W., Smeets,R., Gelman-Kohan,Z.,
            Elpeleg,O., Loeffen,J., Trijbels,F., Mariman,E., De Bruijn,D. and
            Smeitink,J.
  TITLE     Demonstration of the first pathogenic mutation in human complex I
            deficiency: A 5 base pair duplication in the nuclear gene encoding
            the 18 kDa (AQDQ) subunit
  JOURNAL   Unpublished
  REMARK    Submitted (07-08-1997) Am. J. Hum. Genet.
REFERENCE   2  (bases 1 to 668)
  AUTHORS   Van Den Heuvel,L., Ruitenbeek,W., Smeets,R., Gelman-Kohan,Z.,
            Elpeleg,O., Loeffen,J., Trijbels,F., Mariman,E., De Bruijn,D. and
            Smeitink,J.
  TITLE     Direct Submission
  JOURNAL   Submitted (21-AUG-1997) Department of Pediatrics and Human
            Genetics, University Hospital Nijmegen, P.O. Box 9101, Nijmegen,
            Gelderland 6500 HB, The Netherlands
FEATURES             Qualifiers
     source          /db_xref="H-InvDB:HIT000062512"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     protein         /note="subunit of Mitochondrial Complex I"
BEGIN
        1 MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT QLITVDEKLD
       61 ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME FDTRERWENP LMGWASTADP
      121 LSNMVLTFST KEDAVSFAEK NGWSYDIEER KVPKPKSKSY GANFSWNKRT RVSTK
//