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dc.creatorJukić, Marin
dc.creatorLauschke, Volker M.
dc.creatorSaito, Takahiro
dc.creatorHiratsuka, Masahiro
dc.creatorIngelman-Sundberg, Magnus
dc.date.accessioned2019-09-02T12:07:25Z
dc.date.available2019-09-02T12:07:25Z
dc.date.issued2018
dc.identifier.issn1462-2416
dc.identifier.urihttp://farfar.pharmacy.bg.ac.rs/handle/123456789/3200
dc.description.abstractThe ultrarapid CYP2D6 metabolizer (UM) phenotype is caused by CYP2D6 gene duplications in some, but not all, UM individuals. CYP2D6 and the adjacent pseudogene CYP2D7 are highly homologous; however, CYP2D7 harbors a premature stop codon, which is absent in carriers of the rare CYP2D7 variant rs530303678. We addressed whether rs530303678 could generate a functionally active protein, causing the UM phenotype. However, unlike CYP2D6 variants, two CYP2D7 rs530303678 variant isoforms, previously described in liver, showed neither significant protein expression nor catalytic activity toward the CYP2D6 substrates bufuralol or dextromethorphan. We conclude that loss of the stop codon in CYP2D7 does not result in the generation of enzymatically active protein in human liver and thus, cannot cause the UM phenotype.en
dc.publisherFuture Medicine Ltd, London
dc.relationSwedish Research Council - 2015-02760
dc.rightsrestrictedAccess
dc.sourcePharmacogenomics
dc.subjectCYP2D6en
dc.subjectultrarapid metabolizamen
dc.subjectCYP2D7en
dc.subjectbufuralolen
dc.subjectdextromethorphanen
dc.titleFunctional characterization of CYP2D7 gene variantsen
dc.typearticle
dc.rights.licenseARR
dcterms.abstractЛаусцхке, Волкер М.; Јукић, Марин; Ингелман-Сундберг, Магнус; Хиратсука, Масахиро; Саито, Такахиро;
dc.citation.volume19
dc.citation.issue12
dc.citation.spage931
dc.citation.epage936
dc.citation.other19(12): 931-936
dc.citation.rankM23
dc.identifier.wos000445669500002
dc.identifier.doi10.2217/pgs-2018-0065
dc.identifier.pmid30040020
dc.identifier.scopus2-s2.0-85051123698
dc.identifier.rcubconv_4158
dc.type.versionpublishedVersion


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