Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

cytochrome P450 3A4

The CYP3A4 gene encodes an enzyme from the cytochrome P450 superfamily which is involved in metabolism of steroids (hormones and lipids) and various drugs.

Genetests:

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

Related Diseases:

References:

1.

Paolini M et. al. (1999) Co-carcinogenic effect of beta-carotene.

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2.

Nebert DW et. al. (1987) P450 genes: structure, evolution, and regulation.

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3.

Daly AK et. al. (1992) Deficient nifedipine oxidation: a rare inherited trait associated with cystic fibrosis kindreds.

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4.

Inoue K et. al. (1992) Assignment of the human cytochrome P-450 nifedipine oxidase gene (CYP3A4) to chromosome 7 at band q22.1 by fluorescence in situ hybridization.

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5.

Wolf CR et. al. (1992) Relationship between the debrisoquine hydroxylase polymorphism and cancer susceptibility.

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6.

Wrighton SA et. al. (1992) The human hepatic cytochromes P450 involved in drug metabolism.

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7.

Forrester LM et. al. (1990) Evidence for involvement of multiple forms of cytochrome P-450 in aflatoxin B1 metabolism in human liver.

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8.

Shimada T et. al. (1989) Evidence for cytochrome P-450NF, the nifedipine oxidase, being the principal enzyme involved in the bioactivation of aflatoxins in human liver.

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9.

Wrighton SA et. al. (1989) Isolation and characterization of human fetal liver cytochrome P450HLp2: a third member of the P450III gene family.

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10.

Spurr NK et. al. (1989) The human cytochrome P450 CYP3 locus: assignment to chromosome 7q22-qter.

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11.

Brooks BA et. al. (1988) The gene CYP3 encoding P450pcn1 (nifedipine oxidase) is tightly linked to the gene COL1A2 encoding collagen type 1 alpha on 7q21-q22.1.

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12.

Renwick AG et. al. (1988) The pharmacokinetics of oral nifedipine--a population study.

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13.

Gonzalez FJ et. al. (1988) Human P450PCN1: sequence, chromosome localization, and direct evidence through cDNA expression that P450PCN1 is nifedipine oxidase.

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14.

Schellens JH et. al. (1988) Lack of bimodality in nifedipine plasma kinetics in a large population of healthy subjects.

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15.

Molowa DT et. al. (1986) Complete cDNA sequence of a cytochrome P-450 inducible by glucocorticoids in human liver.

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16.

Watkins PB et. al. (1985) Identification of an inducible form of cytochrome P-450 in human liver.

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17.

Kleinbloesem CH et. al. (1984) Variability in nifedipine pharmacokinetics and dynamics: a new oxidation polymorphism in man.

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18.

Elshourbagy NA et. al. (1980) Separation, purification, and characterization of a novel form of hepatic cytochrome P-450 from rats treated with pregnenolone-16 alpha-carbonitrile.

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19.

Shet MS et. al. (1993) Human cytochrome P450 3A4: enzymatic properties of a purified recombinant fusion protein containing NADPH-P450 reductase.

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20.

Chen H et. al. (1996) Increased risk for myelodysplastic syndromes in individuals with glutathione transferase theta 1 (GSTT1) gene defect.

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21.

Lown KS et. al. (1997) Grapefruit juice increases felodipine oral availability in humans by decreasing intestinal CYP3A protein expression.

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22.

Thummel KE et. al. (1998) In vitro and in vivo drug interactions involving human CYP3A.

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23.

Rebbeck TR et. al. (1998) Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4.

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24.

Lehmann JM et. al. (1998) The human orphan nuclear receptor PXR is activated by compounds that regulate CYP3A4 gene expression and cause drug interactions.

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25.

Felix CA et. al. (1998) Association of CYP3A4 genotype with treatment-related leukemia.

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26.

Paris PL et. al. (1999) Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients.

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27.

Goodwin B et. al. (1999) The orphan human pregnane X receptor mediates the transcriptional activation of CYP3A4 by rifampicin through a distal enhancer module.

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28.

Walker AH et. al. (1998) Characterization of an allelic variant in the nifedipine-specific element of CYP3A4: ethnic distribution and implications for prostate cancer risk. Mutations in brief no. 191. Online.

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29.

Xie W et. al. (2000) Humanized xenobiotic response in mice expressing nuclear receptor SXR.

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30.

Kittles RA et. al. (2002) CYP3A4-V and prostate cancer in African Americans: causal or confounding association because of population stratification?

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31.

Goodwin B et. al. (2002) Transcriptional regulation of the human CYP3A4 gene by the constitutive androstane receptor.

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32.

Zeigler-Johnson CM et. al. (2002) Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4.

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33.

Tirona RG et. al. (2003) The orphan nuclear receptor HNF4alpha determines PXR- and CAR-mediated xenobiotic induction of CYP3A4.

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34.

Dimaraki EV et. al. (2003) Troglitazone induces CYP3A4 activity leading to falsely abnormal dexamethasone suppression test.

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35.

Masuyama H et. al. (2003) Expression and potential roles of pregnane X receptor in endometrial cancer.

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36.

Markowitz JS et. al. (2003) Effect of St John's wort on drug metabolism by induction of cytochrome P450 3A4 enzyme.

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37.

Loukola A et al. (2004) Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.

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38.

Gupta RP et. al. (2004) CYP3A4 is a human microsomal vitamin D 25-hydroxylase.

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39.

Williams PA et. al. (2004) Crystal structures of human cytochrome P450 3A4 bound to metyrapone and progesterone.

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40.

Hirota T et. al. (2004) Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status.

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41.

Gupta RP et. al. (2005) CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis.

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42.

Schirmer M et. al. (2006) Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations.

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43.

Ekroos M et. al. (2006) Structural basis for ligand promiscuity in cytochrome P450 3A4.

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44.

van Herwaarden AE et. al. (2007) Knockout of cytochrome P450 3A yields new mouse models for understanding xenobiotic metabolism.

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Update: Sept. 26, 2018