CYP27A1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. This enzyme is located in many different tissues where it is found within the mitochondria. It is most prominently involved in the biosynthesis of bile acids.
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| Aliases | CYP27A1, CP27, CTX, CYP27, cytochrome P450 family 27 subfamily A member 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606530; MGI: 88594; HomoloGene: 36040; GeneCards: CYP27A1; OMA:CYP27A1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways.[5] It is the initiating enzyme in the acidic pathway to bile acids, yielding oxysterols by introducing a hydroxyl group to the carbon at the 27 position in cholesterol. In the acidic pathway, it produces 27-hydroxycholesterol from cholesterol whereas in the classic or neutral pathway, it produces 3β-hydroxy-5-cholestenoic acid.
While CYP27A1 is present in many different tissues, its function in these tissues is largely uncharacterized. In macrophages, 27-hydroxycholesterol generated by this enzyme may be helpful against the production of inflammatory factors associated with cardiovascular disease.[6]
Clinical significance
Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease.
Inhibitors of CYP27A1 may be effective as adjuvants in the treatment of ER-positive breast cancer due to inhibition of the production of 27-hydroxycholesterol (which has estrogenic actions and stimulates the growth of ER-positive breast cancer cells).[7] Some marketed drugs that have been identified as CYP27A1 inhibitors include anastrozole, fadrozole, bicalutamide, dexmedetomidine, ravuconazole, and posaconazole.[7]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
- The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".
