CYP27A1
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cytochrome P450, family 27, subfamily A, polypeptide 1
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| Identifiers | |
| Symbol | CYP27A1 CYP27 |
| HUGO | 2605 |
| Entrez | 1593 |
| OMIM | 606530 |
| RefSeq | NM_000784 |
| UniProt | Q02318 |
| Other data | |
| Locus | Chr. 2 q33-qter |
CYP27A1is a gene associated with cerebrotendineous xanthomatosis. It encodes a cytochrome P450 oxidase that is commonly known as sterol 27-hydroxylase, an enzyme involved in the biosynthesis of bile acids. The enzyme participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways. In fact, it is initiating the acidic pathway by yielding oxysterols by introducing a hydroxylgroup to the carbon at 27 position in cholesterol.
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