Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This gene, CYP2B6, 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 its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
| 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 |
| 1. |
Trask B et al. (1993) Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers. 
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| 2. |
Paolini M et al. (1999) Co-carcinogenic effect of beta-carotene.
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| 3. |
Thum T et al. (2000) Gene expression in distinct regions of the heart.
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| 4. |
Tsuchiya K et al. (2004) Homozygous CYP2B6 *6 (Q172H and K262R) correlates with high plasma efavirenz concentrations in HIV-1 patients treated with standard efavirenz-containing regimens.
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| 5. |
Haas DW et al. (2004) Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study.
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| 6. |
Cressey TR et al. (2007) Pharmacogenetics of antiretroviral drugs for the treatment of HIV-infected patients: an update.
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| 7. |
Blievernicht JK et al. (2007) MALDI-TOF mass spectrometry for multiplex genotyping of CYP2B6 single-nucleotide polymorphisms.
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| 8. |
Davaalkham J et al. (2009) Allele and genotype frequencies of cytochrome P450 2B6 gene in a Mongolian population.
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| 9. |
Watanabe T et al. (2010) Functional characterization of 26 CYP2B6 allelic variants (CYP2B6.2-CYP2B6.28, except CYP2B6.22).
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| 10. |
Carr DF et al. (2010) Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort.
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| 11. |
Elens L et al. (2010) Influence of host genetic factors on efavirenz plasma and intracellular pharmacokinetics in HIV-1-infected patients.
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| 12. |
Radloff R et al. (2013) Novel CYP2B6 enzyme variants in a Rwandese population: functional characterization and assessment of in silico prediction tools.
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| 13. |
Yamano S et al. (1989) cDNA cloning and sequence and cDNA-directed expression of human P450 IIB1: identification of a normal and two variant cDNAs derived from the CYP2B locus on chromosome 19 and differential expression of the IIB mRNAs in human liver.
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| 14. |
Miles JS et al. (1988) A novel human cytochrome P450 gene (P450IIB): chromosomal localization and evidence for alternative splicing.
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| 15. |
Santisteban I et al. (1988) The major phenobarbital-inducible cytochrome P-450 gene subfamily (P450IIB) mapped to the long arm of human chromosome 19.
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| 16. |
Mizukami Y et al. (1983) Gene structure of a phenobarbital-inducible cytochrome P-450 in rat liver.
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