IdentifierDBSNPE005860
DrugDB00675 (Tamoxifen)
Interacting Gene/EnzymeCytochrome P450 2D6
Gene NameCYP2D6
UniProt IDP10635
Defining Change(s)
Allele NameCYP2D6*4
Genotype(s)Not Available
Type(s)Effect Inferred
GroupsNon-functional CYP2D6
DescriptionPoor response to drug treatment, shorter time to relapse
References
  1. Kagimoto M, Heim M, Kagimoto K, Zeugin T, Meyer UA: Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. J Biol Chem. 1990 Oct 5;265(28):17209-14. [PubMed:2211621 ]
  2. Gough AC, Miles JS, Spurr NK, Moss JE, Gaedigk A, Eichelbaum M, Wolf CR: Identification of the primary gene defect at the cytochrome P450 CYP2D locus. Nature. 1990 Oct 25;347(6295):773-6. [PubMed:1978251 ]
  3. Hanioka N, Kimura S, Meyer UA, Gonzalez FJ: The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site. Am J Hum Genet. 1990 Dec;47(6):994-1001. [PubMed:1978565 ]
  4. Yokota H, Tamura S, Furuya H, Kimura S, Watanabe M, Kanazawa I, Kondo I, Gonzalez FJ: Evidence for a new variant CYP2D6 allele CYP2D6J in a Japanese population associated with lower in vivo rates of sparteine metabolism. Pharmacogenetics. 1993 Oct;3(5):256-63. [PubMed:8287064 ]
  5. Marez D, Legrand M, Sabbagh N, Lo Guidice JM, Spire C, Lafitte JJ, Meyer UA, Broly F: Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution. Pharmacogenetics. 1997 Jun;7(3):193-202. [PubMed:9241659 ]
  6. Sachse C, Brockmoller J, Bauer S, Roots I: Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am J Hum Genet. 1997 Feb;60(2):284-95. [PubMed:9012401 ]
  7. Shimada T, Tsumura F, Yamazaki H, Guengerich FP, Inoue K: Characterization of (+/-)-bufuralol hydroxylation activities in liver microsomes of Japanese and Caucasian subjects genotyped for CYP2D6. Pharmacogenetics. 2001 Mar;11(2):143-56. [PubMed:11266079 ]
  8. Agundez JA, Ramirez R, Hernandez M, Llerena A, Benitez J: Molecular heterogeneity at the CYP2D gene locus in Nicaraguans: impact of gene-flow from Europe. Pharmacogenetics. 1997 Aug;7(4):337-40. [PubMed:9295063 ]
  9. Fuselli S, Dupanloup I, Frigato E, Cruciani F, Scozzari R, Moral P, Sistonen J, Sajantila A, Barbujani G: Molecular diversity at the CYP2D6 locus in the Mediterranean region. Eur J Hum Genet. 2004 Nov;12(11):916-24. [PubMed:15340360 ]
  10. Gaedigk A, Bradford LD, Alander SW, Leeder JS: CYP2D6*36 gene arrangements within the cyp2d6 locus: association of CYP2D6*36 with poor metabolizer status. Drug Metab Dispos. 2006 Apr;34(4):563-9. Epub 2006 Jan 13. [PubMed:16415111 ]
  11. Dodgen TM, Hochfeld WE, Fickl H, Asfaha SM, Durandt C, Rheeder P, Drogemoller BI, Wright GE, Warnich L, Labuschagne CD, van Schalkwyk A, Gaedigk A, Pepper MS: Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study. BMC Med Genet. 2013 Jan 29;14:20. doi: 10.1186/1471-2350-14-20. [PubMed:23356658 ]
  12. The Human Cytochrome P450 (CYP) Allele Nomenclature Database [Link]