CYP4B1 Chromosome 1

Cytochrome P450 family 4 subfamily B member 1
2 variants 2 Health Risk

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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. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Cytochrome P450 family 4
Locus Type
gene with protein product
Location
1p33
Ensembl
ENSG00000142973
Associated Conditions (3)
Pulmonary disease
chronic obstructive
susceptibility to
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS12059860 Health Risk association Pulmonary disease, chronic obstructive, susceptibility to
RS111476033 Health Risk Conflicting classifications of pathogenicity
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