CYP27A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MFX
Identifiers
Aliases	CYP27A1, CP27, CTX, CYP27, cytochrome P450 family 27 subfamily A member 1
External IDs	OMIM: 606530 MGI: 88594 HomoloGene: 36040 GeneCards: CYP27A1
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q35 Start 218,781,749 bp[1] End 218,815,293 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C4|1 38.54 cM Start 74,752,733 bp[2] End 74,777,051 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver tibial nerve left adrenal gland upper lobe of left lung right uterine tube duodenum monocyte right lung inferior ganglion of vagus nerve jejunal mucosa Top expressed in left lobe of liver esophagus skeletal muscle tissue triceps brachii muscle temporal muscle tibialis anterior muscle vastus lateralis muscle digastric muscle sternocleidomastoid muscle masseter muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function monooxygenase activity iron ion binding steroid hydroxylase activity oxidoreductase activity heme binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen metal ion binding vitamin D3 25-hydroxylase activity cholesterol 26-hydroxylase activity cholestanetriol 26-monooxygenase activity Cellular component mitochondrial matrix membrane mitochondrial membranes mitochondrion mitochondrial inner membrane Biological process sterol metabolic process bile acid biosynthetic process cholesterol catabolic process calcitriol biosynthetic process from calciol lipid metabolism steroid biosynthetic process steroid metabolic process cholesterol metabolic process Sources:Amigo / QuickGO
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: 218.78 – 218.82 Mb Chr 1: 74.75 – 74.78 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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]}

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|alt=Vitamin D Synthesis Pathway (view / edit)]]

Vitamin D Synthesis Pathway (view / edit)

1. ^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".