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Cytochrome P450, family 27, subfamily A, polypeptide 1 | |||||||||||
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Identifiers | |||||||||||
Symbols | CYP27A1; CP27; CTX; CYP27 | ||||||||||
External IDs | OMIM: 606530 MGI: 88594 HomoloGene: 36040 GeneCards: CYP27A1 Gene | ||||||||||
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RNA expression pattern | |||||||||||
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More reference expression data | |||||||||||
Orthologs | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | 1593 | 104086 | |||||||||
Ensembl | ENSG00000135929 | ENSMUSG00000026170 | |||||||||
UniProt | Q02318 | Q99LX3 | |||||||||
RefSeq (mRNA) | NM_000784 | NM_024264 | |||||||||
RefSeq (protein) | NP_000775 | NP_077226 | |||||||||
Location (UCSC) | Chr 2: 219.35 - 219.39 Mb |
Chr 1: 74.65 - 74.67 Mb |
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PubMed search | [1] | [2] |
CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase, an enzyme involved in the biosynthesis of bile acids.
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CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways. 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.
It is also involved in the metabolism of vitamin D3.[1]
Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease.
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