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in human complex I deficiency: A 5 base pair duplication in the nuclear gene encoding the 18 kDa (AQDQ) subunit JOURNAL Unpublished REMARK Submitted (07-08-1997) Am.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 //