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cytochrome P450 2C19

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Meyer UA et al. (1986) The molecular mechanisms of two common polymorphisms of drug oxidation--evidence for functional changes in cytochrome P-450 isozymes catalysing bufuralol and mephenytoin oxidation.

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2.

Ferguson RJ et al. (1998) A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin.

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3.

Xiao ZS et al. (1997) Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele.

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4.

Kaneko A et al. (1997) High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu.

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5.

Daly AK et al. (1996) Nomenclature for human CYP2D6 alleles.

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6.

Gray IC et al. (1995) A 2.4-megabase physical map spanning the CYP2C gene cluster on chromosome 10q24.

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7.

Wrighton SA et al. (1993) Isolation and characterization of human liver cytochrome P450 2C19: correlation between 2C19 and S-mephenytoin 4'-hydroxylation.

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8.

de Morais SM et al. (1994) The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans.

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9.

Goldstein JA et al. (1994) Evidence that CYP2C19 is the major (S)-mephenytoin 4'-hydroxylase in humans.

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10.

De Morais SM et al. (1994) Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese.

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11.

Inoue K et al. (1994) Fluorescence in situ hybridization analysis of chromosomal localization of three human cytochrome P450 2C genes (CYP2C8, 2C9, and 2C10) at 10q24.1.

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12.

Richardson TH et al. (1995) A universal approach to the expression of human and rabbit cytochrome P450s of the 2C subfamily in Escherichia coli.

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13.

Nebert DW et al. (1987) The P450 gene superfamily: recommended nomenclature.

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14.

Black SD et al. (1987) P-450 cytochromes: structure and function.

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15.

Meehan RR et al. (1988) Chromosomal organization of the cytochrome P450-2C gene family in the mouse: a locus associated with constitutive aryl hydrocarbon hydroxylase.

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16.

Thum T et al. (2000) Gene expression in distinct regions of the heart.

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17.

Meehan RR et al. (1988) Human cytochrome P-450 PB-1: a multigene family involved in mephenytoin and steroid oxidations that maps to chromosome 10.

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18.

Shephard EA et al. (1989) Cloning, expression and chromosomal localization of a member of the human cytochrome P450IIC gene sub-family.

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19.

Gough AC et al. (1989) An XmnI RFLP detected with a cDNA probe for the CYP2C gene locus on chromosome 10.

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20.

Romkes M et al. (1991) Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamily.

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21.

Taubert D et al. (2009) Cytochrome P-450 polymorphisms and response to clopidogrel.

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22.

Wang SM et al. (2009) Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations.

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23.

Mega JL et al. (2009) Cytochrome p-450 polymorphisms and response to clopidogrel.

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24.

Simon T et al. (2009) Genetic determinants of response to clopidogrel and cardiovascular events.

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25.

Giusti B et al. (2007) Cytochrome P450 2C19 loss-of-function polymorphism, but not CYP3A4 IVS10 + 12G/A and P2Y12 T744C polymorphisms, is associated with response variability to dual antiplatelet treatment in high-risk vascular patients.

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26.

Liou YH et al. (2006) The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population.

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27.

Ohkubo Y et al. (2006) Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation.

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28.

Blaisdell J et al. (2002) Identification and functional characterization of new potentially defective alleles of human CYP2C19.

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29.

Ibeanu GC et al. (1998) An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians.

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Update: June 23, 2025
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