CYP2A6 gene polymorphism drug guide standard

date:2023-03-09 source:

Introduction to CYP2A6 Gene

The CYP2A6 gene is located on chromosome 19, with 6000 base pairs and 9 exons, encoding a protein CYP2A6 consisting of 494 amino acids. Coumarin is a specific substrate of CYP2A6, which can be metabolized into 7-OH coumarin by CYP2A6 and excreted from the body. Until now, the ability to metabolize coumarin has been used to divide the activity of CYP2A6 into intensive metabolism individuals (extensive metabolisms, EMs) Or poor metabolizers (poor metabolisms, PMs), used to assess differences in CYP2A6 activity among individuals. Nicotine is another substance that is specifically metabolized by CYP2A6. In the human body, almost 70% to 80% of nicotine is metabolized by CYP2A6 into inactive cotinib. In addition, CYP2A6 can also metabolize clinical drugs such as SM-12502, clomethiazole, and valproic acid.


CYP2A6 is one of the important members of the CYP2A subfamily, accounting for about 4% of the total CYP450 content. The significant changes in CYP2A6 activity are mainly the result of genetic influence. Major variants of CYP2A6 polymorphisms Over 40 variants have been identified, including CYP2A6*2 (rs1801272, g.1799T >A), CYP2A6*4 (gene deletion), CYP2A6*5 (rs5031017 g.6582G > T) and CYP2A6*20 (rs28399444, frameshift). Other alleles associated with reduced enzyme activity include *7 (rs5031016, g.6558 T>C), *10 (rs28399468, g.6600G>T) *11 (rs111033610.g.3391T>C), *17 ( rs28399454, g.5065G>A), *18 (rs1809810 g.5668A>T), *19 (rs5031016 g.6558T>C). As with other CYP polymorphisms, there are significant inter-ethnic differences in allele frequencies. Deletion of the CYP2A6 gene is very common in Asian patients, which may explain the significant difference in the high incidence of PM between Asians (20%) and Caucasians (≤1%).

CYP2A6 gene polymorphism drug guide standard

The detection of CYP2A6 gene is of great significance to clinical patients. In order to ensure the accuracy of gene detection, we have introduced standard products related to drug-guided gene detection, which can be selected by manufacturers of kit development.

CYP2A6*9 Reference Standard CBPA0034

CYP2A6*9 Reference Standard CBPA0035


CYP2A6*1 Reference Standard CBPA0036


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