CYP27A1 Antibody

1. CYP27A1 SNPs are not associated with vitamin D status and multiple sclerosis. PMID: 30088172
2. Vitamin D supplementation can decrease circulating 27HC of breast cancer patients, likely by CYP27A1 inhibition. This suggests a new and additional modality by which vitamin D can inhibit ER+ breast cancer growth, though a larger study is needed for verification. PMID: 29116467
3. Whole-exome sequencing assuming recessive inheritance determined his genetic diagnosis to be cerebrotendinous xanthomatosis caused by homozygous mutations (c.410G>A or p.Arg137Gln) in the cytochrome P450 subfamily 27 A1 (CYP27A1) gene PMID: 29269672
4. Three novel mutations in CYP27A1 were found in cerebrotendinous xanthomatosis patients in Chinese families PMID: 28623566
5. Increased maternal and fetal cholesterol efflux capacity and placental CYP27A1 expression in preeclampsia PMID: 28396342
6. Molecular study identified a novel homozygous frameshift mutation in CYP27A1 gene in cerebrotendinous xanthomatosis without cataract PMID: 28229379
7. Cerebrotendinous xanthomatosis .. is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. Sequencing of CYP27A1 showed a paternally inherited splice mutation, c.446 + 1G>T, and a maternally inherited nonsense mutation, c.808C>T, predicting p.(Arg270*). PMID: 28590052
8. we demonstrated the rare missense variant of CYP27A1 is associated with atopic dermatitis with elevated levels of total serum IgE. PMID: 27259383
9. The 32 kb deleted region harbors the CYP2A7 gene and was enriched with enhancer, repressor and insulator sites. The wildtype allele was lost in the polyps of the proband PMID: 28306719
10. CYP27A1 is a critical cellular cholesterol sensor in prostate cells and that dysregulation of the CYP27A1/27-hydroxycholesterol (27HC) axis contributes significantly to prostate cancer pathogenesis. PMID: 28130224
11. CYP27A1 catalyzes hydroxylation of beta-sitosterol and ergosterol PMID: 26891232
12. This study suggests a shared genetic etiology between MS and the characterized single-gene disorders, and highlights cholesterol metabolism and the synthesis of oxysterols as important biological mechanisms for familial MS PMID: 28337550
13. CYP46A1 is involved in cholestanol removal from the brain and that several factors contribute to the preferential increase in cholestanol in the cerebellum arising from CYP27A1 deficiency. PMID: 28190002
14. A significant decrease in the expression level of CYP27A1 in female patients could indicate their greater vulnerability to multiple sclerosis than the male patients. PMID: 27792005
15. A novel mutation (c.1183_1184insT) in several members of a Colombian cerebrotendinous xanthomatosis family is responsible for mental retardation, psychiatric disorders, behavioral changes, and multiple domains cognitive impairment with dysexecutive dominance that progressed to early dementia. PMID: 26844446
16. CYP27A1 belongs to the mitochondrial CYPs and plays a crucial role in the cholesterol homeostasis. PMID: 26638999
17. Analysis of ~60,000 human exomes points to underdiagnosis of cerebrotendinous xanthomatosis due to CYP27A1 mutations. PMID: 26643207
18. marinobufagenin is derived from bile acids and its biosynthesis is initiated by CYP27A1 enzyme PMID: 26374826
19. The 25-hydroxylases CYP2R1 and CYP27A1 catalyze vitamin D to its circulating form 25-hydroxyvitamin D. PMID: 25845986
20. In a patient with cerebrotendinous xanthomatosis, analysis of the CYP27A1 gene identified compound heterozygosity for p.A335V, a novel mutation. PMID: 25447658
21. study describes two unrelated Sardinian families sharing the same CYP27A1 mutation, p.Arg479Cys; phenotype of the patients is characteristic of cerebrotendinous xanthomatosis PMID: 24584636
22. 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. PMID: 24029861
23. Cyp27A1 mutations were identified in early onset CAD pedigree. PMID: 24080357
24. Studied whether abnormal endometrial expression of CYP27A1 and/or CYP2R1 may impair VDR-antiproliferative properties in endometrial carcinoma. PMID: 24732451
25. Data indicate that inhibition of CYP27A1 activity or knockdown and deletion of the Cyp27a1 gene induced adipocyte differentiation. PMID: 24280213
26. The expression of CYP27A1 modulates the concentrations of active glucocorticoids in both humans and mice and in vitro. PMID: 24096962
27. An alternative to elimination of brain cholesterol by the CYP46A1 mechanism is elimination by CYP27A1. PMID: 22185844
28. 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 . PMID: 22509407
29. study found that adenosine A2A receptor stimulation inhibited foam cell formation by a mechanism dependent on the expression of CYP27A1 PMID: 21258856
30. Mutations consisting of c.1146_1151deletion-insertion and c.1214G>A substitution of CYP27A1 are identified in patients having cerebrotendinous xanthomatosis. PMID: 21958693
31. CYP27A1 mutations were found in the proband and a Chinese family with Cerebrotendinous Xanthomatosis PMID: 22018287
32. Sterol 27-hydroxylase cytochrome P450 27A1 (CYP27A1) is involved in elimination of 7-ketocholesterol from the retinal pigment epithelium. PMID: 21411718
33. the post-translational modifications identified in CYP27A1 exemplify a general mechanism whereby oxidative stress and inflammation deleteriously affect protein function PMID: 21498512
34. 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. PMID: 20402754
35. 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. PMID: 21049985
36. 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. PMID: 20558929
37. 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. PMID: 21134350
38. down-regulation of genes involved in the cholesterol synthesis pathway results in down-regulation of CYP27A1 which diminishes oxysterol concentrations PMID: 20149624
39. Overexpression of CYP27A1 in CHOP cells decreased progesterone conversion to 20alpha-DH-progesterone in a dose-dependent manner PMID: 19671838
40. There needs to be a high level of suspicion of cerebrotendinous xanthomatosis (CXT) for any child with cataracts and developmental delay PMID: 20450308
41. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27. PMID: 11903362
42. Endogenous CYP27A1 is of importance for the normal efflux of both cholesterol and cholestanol from tendons. PMID: 12117727
43. levels of 27-hydroxycholesterol are not of critical importance for cholesterol homeostasis in mice. PMID: 12119285
44. A compound heterozygous mutation in CYP27A1 (one missense mutation and one intronic nucleotide change) occurs in a Taiwanese family with cerebrotendinous xanthomatosis. PMID: 12242561
45. 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 PMID: 12777473
46. The pathogenesis of cholesterolosis may be multifactorial, but is not caused by reduced efflux of cholesterol due to a defect sterol 27-hydroxylase mechanism. PMID: 14672608
47. We reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-1G>T) was identified. PMID: 14741198
48. 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 PMID: 15340076
49. stimulation of CYP27A1 by PPARgamma may represent a key previously unrecognized mechanism by which PPARgamma protects against atherosclerosis PMID: 15533057
50. 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. PMID: 15708352

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HGNC: 2605

OMIM: 213700

KEGG: hsa:1593

STRING: 9606.ENSP00000258415

UniGene: Hs.516700