Linked Life Data

8466518

Source:http://linkedlifedata.com/resource/pubmed/id/8466518

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1993-5-3
pubmed:abstractText
Polymorphic N-acetyltransferase (NAT2), which exists in the human liver and metabolizes a wide spectrum of arylamine, is encoded by one gene (NAT2). We have identified the mutations of a fourth NAT2 allele (allele 4) which we previously found in the Japanese population. Compared with allele 1, which expresses a high enzyme activity, allele 4 has 3 nucleotide differences. 2 are missense mutations at nucleotide position (nt) 341 and 803. The other is a silent mutation at the KpnI site. From the result of expression studies of chimeric gene constructs between allele 1 and allele 4 in Chinese hamster ovary cells, nt 341 missense mutation of the allele 4 which causes the Ile-114 to Thr change is responsible for the low enzyme activity of NAT2 protein.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
31
pubmed:volume
191
pubmed:geneSymbol
NAT2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
811-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
The structure and characteristics of a fourth allele of polymorphic N-acetyltransferase gene found in the Japanese population.
pubmed:affiliation
Department of Clinical Genetics, Kyushu University, Oita, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't