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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1996-1-3
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pubmed:databankReference |
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pubmed:abstractText |
Glutaryl-CoA dehydrogenase (GCDH) is a nuclear-encoded, mitochondrial matrix enzyme. In humans, deficiency of GCDH leads to glutaric acidemia type I, an inherited disorder of amino acid metabolism characterized by a progressive neurodegenerative disease. In this report we describe the cloning and structure of the mouse GCDH (Gcdh) gene and cDNA and its chromosomal localization. The mouse Gcdh cDNA is 1.75 kb long and contains an open reading frame of 438 amino acids. The amino acid sequences of mouse, human, and pig GCDH are highly conserved. The mouse Gcdh gene contains 11 exons and spans 7 kb of genomic DNA. Gcdh was mapped by backcross analysis to mouse chromosome 8 within a region that is homologous to a region of human chromosome 19, where the human gene was previously mapped.
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pubmed:grant |
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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 |
Aug
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pubmed:issn |
0888-7543
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
10
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
508-12
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:7490088-Amino Acid Sequence,
pubmed-meshheading:7490088-Animals,
pubmed-meshheading:7490088-Base Sequence,
pubmed-meshheading:7490088-Chromosome Mapping,
pubmed-meshheading:7490088-Cloning, Molecular,
pubmed-meshheading:7490088-DNA, Complementary,
pubmed-meshheading:7490088-Female,
pubmed-meshheading:7490088-Glutaryl-CoA Dehydrogenase,
pubmed-meshheading:7490088-Humans,
pubmed-meshheading:7490088-Male,
pubmed-meshheading:7490088-Mice,
pubmed-meshheading:7490088-Mice, Inbred C57BL,
pubmed-meshheading:7490088-Molecular Sequence Data,
pubmed-meshheading:7490088-Oxidoreductases,
pubmed-meshheading:7490088-Oxidoreductases Acting on CH-CH Group Donors,
pubmed-meshheading:7490088-Sequence Homology, Amino Acid,
pubmed-meshheading:7490088-Swine
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pubmed:year |
1995
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pubmed:articleTitle |
Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene.
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pubmed:affiliation |
Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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