CYP2B6 Chromosome 19

Cytochrome P450 family 2 subfamily B member 6
9 variants 9 Drug Response

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What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 2
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000197408
Associated Conditions (7)
Efavirenz response
Familial cancer of breast
nevirapine response - Toxicity
CYP2B6-related disorder
efavirenz response - Metabolism/PK
efavirenz response - Toxicity
nevirapine response - Metabolism/PK
Key Variants
All Variants (9)
RSID Category Clinical Significance Conditions
RS139801276 Drug Response drug response Efavirenz response, Efavirenz response
RS186335453 Drug Response drug response Efavirenz response, Familial cancer of breast, Efavirenz response
RS281864907 Drug Response drug response Efavirenz response, Efavirenz response
RS28399499 Drug Response drug response nevirapine response - Toxicity, CYP2B6-related disorder, nevirapine response - Toxicity
RS34097093 Drug Response drug response Efavirenz response, Efavirenz response
RS36079186 Drug Response drug response Efavirenz response, Efavirenz response
RS371424910 Drug Response drug response Efavirenz response, Efavirenz response
RS373489637 Drug Response drug response Efavirenz response, Efavirenz response
RS3745274 Drug Response drug response Efavirenz response, efavirenz response - Metabolism/PK, efavirenz response - Toxicity
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