Property Summary

NCBI Gene PubMed Count 74
PubMed Score 955.54
PubTator Score 690.74

Knowledge Summary


No data available


  Differential Expression (7)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.654 2.5e-02
non-small cell lung cancer -1.962 6.9e-24
lung cancer -1.400 1.1e-04
active Crohn's disease -1.168 8.3e-03
lung adenocarcinoma -1.200 9.0e-06
lung carcinoma -1.900 3.1e-19
psoriasis -1.100 1.2e-44

Gene RIF (58)

26643207 Analysis of ~60,000 human exomes points to underdiagnosis of cerebrotendinous xanthomatosis due to CYP27A1 mutations.
26638999 CYP27A1 belongs to the mitochondrial CYPs and plays a crucial role in the cholesterol homeostasis.
26374826 marinobufagenin is derived from bile acids and its biosynthesis is initiated by CYP27A1 enzyme
25845986 The 25-hydroxylases CYP2R1 and CYP27A1 catalyze vitamin D to its circulating form 25-hydroxyvitamin D.
25447658 In a patient with cerebrotendinous xanthomatosis, analysis of the CYP27A1 gene identified compound heterozygosity for p.A335V, a novel mutation.
24732451 Studied whether abnormal endometrial expression of CYP27A1 and/or CYP2R1 may impair VDR-antiproliferative properties in endometrial carcinoma.
24584636 study describes two unrelated Sardinian families sharing the same CYP27A1 mutation, p.Arg479Cys; phenotype of the patients is characteristic of cerebrotendinous xanthomatosis
24280213 Data indicate that inhibition of CYP27A1 activity or knockdown and deletion of the Cyp27a1 gene induced adipocyte differentiation.
24096962 The expression of CYP27A1 modulates the concentrations of active glucocorticoids in both humans and mice and in vitro.
24080357 Cyp27A1 mutations were identified in early onset CAD pedigree.
24029861 The increased cutaneous CYP27B1 levels in the CKD patients suggest that the loss of renal activity of this enzyme is at least partially compensated for by the skin.
22509407 This study has identified candidate genes for sporadic Amyotrophic lateral sclerosis( ALS), most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS .
22227097 Features of the retinal environment which affect the activities and product profile of cholesterol-metabolizing cytochromes P450 CYP27A1 and CYP11A1.
22185844 An alternative to elimination of brain cholesterol by the CYP46A1 mechanism is elimination by CYP27A1.
22018287 CYP27A1 mutations were found in the proband and a Chinese family with Cerebrotendinous Xanthomatosis
21958693 Mutations consisting of c.1146_1151deletion-insertion and c.1214G>A substitution of CYP27A1 are identified in patients having cerebrotendinous xanthomatosis.
21498512 the post-translational modifications identified in CYP27A1 exemplify a general mechanism whereby oxidative stress and inflammation deleteriously affect protein function
21411718 Sterol 27-hydroxylase cytochrome P450 27A1 (CYP27A1) is involved in elimination of 7-ketocholesterol from the retinal pigment epithelium.
21258856 study found that adenosine A2A receptor stimulation inhibited foam cell formation by a mechanism dependent on the expression of CYP27A1
21134350 results indicate involvement of the JNK/c-jun pathway in AR-mediated upregulation of CYP27A1. The link to JNK signaling is interesting since inflammatory processes may upregulate CYP27A1 to clear cholesterol from peripheral tissues.
21049985 The average P450 concentrations/mg of total tissue protein were 345 fmol of CYP46A1 and 110 fmol of CYP27A1 in the temporal lobe, and 60 fmol of CYP46A1 and 490 fmol of CYP27A1 in the retina.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20855565 Observational study of gene-disease association. (HuGE Navigator)
20809279 Observational study of gene-disease association. (HuGE Navigator)
20654748 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20558929 An Arg104Gln mutation in sterol 27-hydroxylase is identified in Japanese patients with cerebrotendinous xanthomatosis; case 1 is a compound heterozygote for Arg104Gln in exon 2 and Arg441Gln in exon 8.
20450308 There needs to be a high level of suspicion of cerebrotendinous xanthomatosis (CXT) for any child with cataracts and developmental delay
20402754 Four novel mutations located in different exons, in particular in the region of exons 2-5 of the CYP27A1 gene, present as classical cerebrotendinous xanthomatosis.
20149624 down-regulation of genes involved in the cholesterol synthesis pathway results in down-regulation of CYP27A1 which diminishes oxysterol concentrations
19913121 Observational study of gene-disease association. (HuGE Navigator)
19852851 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19671838 Overexpression of CYP27A1 in CHOP cells decreased progesterone conversion to 20alpha-DH-progesterone in a dose-dependent manner
19343046 Observational study of gene-disease association. (HuGE Navigator)
19255064 Single nucleotide polymorphisms may be associated with risk of prostate cancer in men with low vitamin D status.
19255064 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18791760 Results describe the membrane topology of CYPs 27A1 and 11A1.
18227423 We found the first cerebrotendinous xanthomatosis family from Argentina with a new mutation in CYP27A1 gene.
17875655 CYP27A1 and CYP24 expression is a function of malignant transformation in the colon
17697869 K226R, D321G, and P408S mutants showed 25-hydroxylation activity for 1alphaOHD(3) as well as wild type.
17482558 human CYP27A1 gene is a target for estrogens and androgens
17292862 Glutamine 85 cyp27A1 plays essential roles in both substrate-binding and protein folding.
17088262 there may be an intestine-specific PXR/CYP27A1/LXRalpha pathway that regulates intestine cholesterol efflux and HDL assembly.
16930540 Monocyte-derived cells express CYP27A1 and convert vitamin D3 into its active metabolite
16584175 Mutation of the overlapping substrate-contact residues (W100, H103, T110, M301C, V367, I481, and V482) affected CYP27A1 binding and enzyme activity in a substrate-dependent manner and allowed identification of several important side chains.
16372260 Mutation in Cytochrome P-450 CYP27A1 is associated with cerebrotendinous xanthomatosis
16157755 In this study showed that the Cerebrotendinous xanthomatosis( CTX) due to CYP27 mutation R362C.
15708352 Data suggest that induction of sterol 27-hydroxylase (CYP27A1) by TGF-beta1 may be responsible for some of the anti-atherogenic properties of this cytokine.
15533057 stimulation of CYP27A1 by PPARgamma may represent a key previously unrecognized mechanism by which PPARgamma protects against atherosclerosis
15340076 nuclear receptor-regulated CYP27 expression is likely to be a key integrator of retinoic acid receptor-PPARgamma-LXR signaling, relying on natural ligands and contributing to lipid metabolism in macrophages
14741198 We reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-1G>T) was identified.
14672608 The pathogenesis of cholesterolosis may be multifactorial, but is not caused by reduced efflux of cholesterol due to a defect sterol 27-hydroxylase mechanism.
12777473 The very high activity of CYP27A1 towards the cholestanol precursor 4-cholesten-3-one may be of importance in connection with the accumulation of cholestanol in patients with cerebrotendinous xanthomatosis
12242561 A compound heterozygous mutation in CYP27A1 (one missense mutation and one intronic nucleotide change) occurs in a Taiwanese family with cerebrotendinous xanthomatosis.
12119285 levels of 27-hydroxycholesterol are not of critical importance for cholesterol homeostasis in mice.
12117727 Endogenous CYP27A1 is of importance for the normal efflux of both cholesterol and cholestanol from tendons.
12011083 regulation of CYP7A1 and CYP27A1 in human liver
11903362 A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.

AA Sequence

ARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC                                 491 - 531

Text Mined References (73)

PMID Year Title
26643207 2015 Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
26638999 2016 Expression of human CYP27A1 in B. megaterium for the efficient hydroxylation of cholesterol, vitamin D3 and 7-dehydrocholesterol.
26374826 2015 Synthesis of an Endogenous Steroidal Na Pump Inhibitor Marinobufagenin, Implicated in Human Cardiovascular Diseases, Is Initiated by CYP27A1 via Bile Acid Pathway.
25845986 2015 Childhood asthma and spirometric indices are associated with polymorphic markers of two vitamin D 25-hydroxylase genes.
25447658 2014 Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
24732451 2014 Role of local bioactivation of vitamin D by CYP27A1 and CYP2R1 in the control of cell growth in normal endometrium and endometrial carcinoma.
24584636 2014 Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
24280213 2014 De novo synthesis of steroids and oxysterols in adipocytes.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24096962 2013 Evidence for a role of sterol 27-hydroxylase in glucocorticoid metabolism in vivo.
24080357 2013 Mutation in CYP27A1 identified in family with coronary artery disease.
24029861 2013 A narrow-band ultraviolet B course improves vitamin D balance and alters cutaneous CYP27A1 and CYP27B1 mRNA expression levels in haemodialysis patients supplemented with oral vitamin D.
22509407 2012 Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
22227097 2012 Features of the retinal environment which affect the activities and product profile of cholesterol-metabolizing cytochromes P450 CYP27A1 and CYP11A1.
22185844 2012 Marked change in the balance between CYP27A1 and CYP46A1 mediated elimination of cholesterol during differentiation of human neuronal cells.
22018287 2011 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.
21958693 2012 Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
21498512 2011 Isolevuglandins and mitochondrial enzymes in the retina: mass spectrometry detection of post-translational modification of sterol-metabolizing CYP27A1.
21411718 2011 Conversion of 7-ketocholesterol to oxysterol metabolites by recombinant CYP27A1 and retinal pigment epithelial cells.
21258856 2012 Cholesterol 27-hydroxylase but not apolipoprotein apoE contributes to A2A adenosine receptor stimulated reverse cholesterol transport.
21134350 2011 Androgen receptor-mediated regulation of the anti-atherogenic enzyme CYP27A1 involves the JNK/c-jun pathway.
21049985 2011 Quantification of cholesterol-metabolizing P450s CYP27A1 and CYP46A1 in neural tissues reveals a lack of enzyme-product correlations in human retina but not human brain.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20855565 2010 Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
20809279 2010 Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.
20654748 2010 High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20558929 2010 Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
20450308 2010 Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.
20402754 2010 Four novel CYP27A1 mutations in seven Italian patients with CTX.
20149624 2010 Vitamin E decreases endogenous cholesterol synthesis and apo-AI-mediated cholesterol secretion in Caco-2 cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19852851 2009 Asthma and genes encoding components of the vitamin D pathway.
19671838 2009 Role of CYP27A1 in progesterone metabolism in vitro and in vivo.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19255064 2009 Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.
18791760 2008 Studies of membrane topology of mitochondrial cholesterol hydroxylases CYPs 27A1 and 11A1.
18227423 2008 The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.
17875655 2007 CYP27A1 and CYP24 expression as a function of malignant transformation in the colon.
17697869 2007 Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.
17482558 2007 Regulation of human CYP27A1 by estrogens and androgens in HepG2 and prostate cells.
17292862 2007 Role of Gln 85 of human CYP27A1 in 25-hydroxyvitamin D(3)-binding and protein folding.
17088262 2007 PXR induces CYP27A1 and regulates cholesterol metabolism in the intestine.
16930540 2006 Monocyte-derived cells express CYP27A1 and convert vitamin D3 into its active metabolite.
16584175 2006 Distinct binding of cholesterol and 5beta-cholestane-3alpha,7alpha,12alpha-triol to cytochrome P450 27A1: evidence from modeling and site-directed mutagenesis studies.
16372260 2006 New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools.
16157755 2005 Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.
15708352 2005 Regulation of sterol 27-hydroxylase in human monocyte-derived macrophages: up-regulation by transforming growth factor beta1.
15533057 2005 Expression and regulation of sterol 27-hydroxylase (CYP27A1) in human macrophages: a role for RXR and PPARgamma ligands.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15340076 2004 Transcriptional regulation of human CYP27 integrates retinoid, peroxisome proliferator-activated receptor, and liver X receptor signaling in macrophages.
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
14741198 2004 Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14672608 2004 Studies on the mechanism of accumulation of cholesterol in the gallbladder mucosa. Evidence that sterol 27-hydroxylase is not a pathogenetic factor.
12777473 2003 On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12242561 2002 Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
12119285 2002 Human sterol 27-hydroxylase (CYP27) overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis.
12011083 2002 Differences in the regulation of the classical and the alternative pathway for bile acid synthesis in human liver. No coordinate regulation of CYP7A1 and CYP27A1.
12000359 2002 Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
11604260 2001 Potency of select statin drugs in a new mouse model of hyperlipidemia and atherosclerosis.
11167933 2001 Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney.
10519880 1999 Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
9790667 1998 A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.
9215552 1997 Sterol 27-hydroxylase: expression in human arterial endothelium.
9186905 1997 Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.
8514861 1993 Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7915755 1994 Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
7690968 1993 Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions.
2019602 1991 Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.
1708392 1991 Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.