Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0406810 (NAME)
 13,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two novel haplotypes of CYP2D6 were found in Japanese subjects. One haplotype of the human CYP2D6 gene, newly designated as CYP2D6(*)44 allele, had both a novel single nucleotide polymorphism (SNP) of 2950G>C in intron 6 donor splice junction and a known SNP (82C<T). The newly detected mutation was as follows: SNP, 030418Tsubuko001; GENE NAME, CYP2D6; ACCESSION NUMBER, M33388; LENGTH, 25 bases; 5'-CGGATGTGCAGCG/CTGAGCCCATCTG-3'. In addition, we found the other haplotype, newly designated as CYP2D6(*)21B allele, containing -1584C>G, -1235A>G, -740C>T, -678G>A, and a gene conversion with CYP2D7 gene in intron 1 associated with CYP2D6(*)21. Both CYP2D6(*)44 and CYP2D6(*)21B alleles would cause a splicing error or a frameshift with impaired drug metabolizing function mediated by CYP2D6.
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PMID:Two novel haplotypes of CYP2D6 gene in a Japanese population. 1561 46