CYP27A1

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Cytochrome P450, family 27, subfamily A, polypeptide 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CYP27A1 ; CP27; CTX; CYP27
External IDs OMIM606530 MGI88594 HomoloGene36040 ChEMBL: 5992 GeneCards: CYP27A1 Gene
EC number 1.14.13.15
RNA expression pattern
PBB GE CYP27A1 203979 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1593 104086
Ensembl ENSG00000135929 ENSMUSG00000026170
UniProt Q02318 Q9DBG1
RefSeq (mRNA) NM_000784 NM_024264
RefSeq (protein) NP_000775 NP_077226
Location (UCSC) Chr 2:
219.65 – 219.68 Mb
Chr 1:
74.71 – 74.74 Mb
PubMed search [1] [2]

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.

Function[edit]

CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways.[1] 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.

It is also involved in the metabolism of vitamin D3.[2]

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.[3]

Clinical significance[edit]

Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease.

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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VitaminDSynthesis_WP1531 Go to article Go to article Go to article Go to article go to article Go to article Go to article Go to article go to article go to article go to article go to article Go to article Go to article go to article Go to article go to article go to article go to article Go to article go to article
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Vitamin D Synthesis Pathway edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531". 

References[edit]

  1. ^ Chiang JY (February 1998). "Regulation of bile acid synthesis". Front Biosci 3: d176–193. PMID 9450986. 
  2. ^ Sakaki T, Kagawa N, Yamamoto K, Inouye K (January 2005). "Metabolism of vitamin D3 by cytochromes P450". Front. Biosci. 10: 119–34. PMID 15574355. 
  3. ^ Taylor JM, Borthwick F, Bartholomew C, Graham A (June 2010). "Overexpression of steroidogenic acute regulatory protein increases macrophage cholesterol efflux to apolipoprotein AI". Cardiovasc Res 86 (3): 526–534. doi:10.1093/cvr/cvq015. PMID 20083572. 

Further reading[edit]

External links[edit]