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rdf:type |
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lifeskim:mentions |
umls-concept:C0006556,
umls-concept:C0008633,
umls-concept:C0009015,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0040287,
umls-concept:C0086418,
umls-concept:C0205409,
umls-concept:C0220927,
umls-concept:C0332197,
umls-concept:C0439855,
umls-concept:C0475264,
umls-concept:C1417620,
umls-concept:C1417648,
umls-concept:C1711351
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pubmed:issue |
1
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pubmed:dateCreated |
1999-5-28
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pubmed:databankReference |
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pubmed:abstractText |
We have cloned the cDNA of the NDUFS5 subunit (15 kDa) of the human mitochondrial respiratory chain complex NADH: ubiquinone oxidoreductase (complex I). The open reading frame consists of 321 base-pairs, coding for 106 amino acids, with a calculated molecular mass of 12.5 kDa. There is an 81.0% identity with the bovine equivalent on cDNA level and 74.5% identity on amino acid basis. PCR analysis of rodent-human somatic cell hybrids revealed that the human NDUFS5 gene maps to chromosome 1. The NDUFS5 mRNA is expressed ubiquitously in human tissues, with a relative higher expression in human heart, skeletal muscle, liver, kidney and fetal heart. A mutation detection study of twenty isolated enzymatic complex I-deficient patients revealed no mutations, nor polymorphisms.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0141-8955
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
19-28
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:10070614-Animals,
pubmed-meshheading:10070614-Base Sequence,
pubmed-meshheading:10070614-Cattle,
pubmed-meshheading:10070614-Cells, Cultured,
pubmed-meshheading:10070614-Chromosome Mapping,
pubmed-meshheading:10070614-Chromosomes, Human, Pair 1,
pubmed-meshheading:10070614-Cloning, Molecular,
pubmed-meshheading:10070614-DNA, Complementary,
pubmed-meshheading:10070614-Electron Transport Complex I,
pubmed-meshheading:10070614-Female,
pubmed-meshheading:10070614-Humans,
pubmed-meshheading:10070614-Male,
pubmed-meshheading:10070614-Mice,
pubmed-meshheading:10070614-Molecular Sequence Data,
pubmed-meshheading:10070614-Mutation,
pubmed-meshheading:10070614-NAD(P)H Dehydrogenase (Quinone),
pubmed-meshheading:10070614-NADH, NADPH Oxidoreductases,
pubmed-meshheading:10070614-Rats,
pubmed-meshheading:10070614-Sequence Analysis, DNA,
pubmed-meshheading:10070614-Sequence Homology, Nucleic Acid,
pubmed-meshheading:10070614-Tissue Distribution
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pubmed:year |
1999
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pubmed:articleTitle |
The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
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pubmed:affiliation |
Nijmegen Center for Mitochondrial Disorders, University Children's Hospital, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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