CYP2C8 Chromosome 10
Cytochrome P450 family 2 subfamily C member 8
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What This Gene Does
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 its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
Cytochrome P450 family 2
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000138115
Associated Conditions (7)
Pulmonary disease
chronic obstructive
susceptibility to
CYP2C8-related disorder
DRUG METABOLISM
ALTERED
CYP2C8-RELATED
Key Variants
RS1934953
association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS3752988
association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS10509681
Benign; association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS72558196
Pathogenic
DRUG METABOLISM, ALTERED, CYP2C8-RELATED
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1934953 | Health Risk | association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS3752988 | Health Risk | association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS10509681 | Health Risk | Benign; association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS72558196 | Health Risk | Pathogenic | DRUG METABOLISM, ALTERED, CYP2C8-RELATED |