CYP24A1 Antibody

1. Study provides evidence for a transmission disequilibrium of allele T of rs2248359 in T2DM family. Maternal derived copy of the variant allele T is the principal risk factor for T2DM offspring. Individuals with CT genotype and T2DM parents may be more likely to suffer from vitamin D deficiency. PMID: 29358755
2. rs2248137 CYP24A1 is associated with vitamin D status and multiple sclerosis. PMID: 30088172
3. The role of methylation in the regulation of CYP24A1 expression in human colorectal cancer showed that DNA methylation is involved in the regulation of CYP24A1 expression in a cell-dependent manner. PMID: 30052060
4. SREBP1 trans-activates CYP24A1 expression through SREBP binding elements present in the promoter. PMID: 29653103
5. There was no significant difference in CYP24A1 expression between epileptic patients and normal subjects. PMID: 29549592
6. No significant differences were found between ischemic stroke patients and controls in terms of CYP24A1 rs927650 and CYP2R1 rs10741657 genotype frequencies. Polymorphic allele frequencies of CYP24A1 rs927650 and CYP2R1 rs10741657 were 0.414 and 0.660 in stroke patients, respectively. PMID: 29528271
7. There were no associations between CYP24A1 polymorphisms and overall cancer risks PMID: 29254801
8. colorectal cancer (CRC) patients had a higher frequence of insufficient vitamin D and a higher concentration of active vitamin D. These concentration were higher between patients with polymorphic genotypes variants of ApaI and BsmI, CYP24A1 and CYP27B1. Polymorphic genotypes cause a lower correlation between the forms of vitamin D. PMID: 28665452
9. Single nucleotide polymorphisms in CYP24A1 has a statistically significant association with risk of the colonic polyps, colon cancer, and ulcerative colitis in a Chinese population. PMID: 28811712
10. The loss of peripheral catabolism of vitamin D metabolites in patients with an inactivating mutation of CYP24A1 is responsible for persistent high levels of 1,25-dihydroxyvitamin D especially after sun exposure and a charge of native vitamin D. PMID: 28456639
11. Dietary habits, lifestyle, and polymorphisms in VDR (ApaI), CYP24A1 (rs6013897, rs158552, rs17217119) and CYP27B1 (rs10877012) were associated with a higher risk of colorectal cancer PMID: 28009432
12. The local regulation of vitamin D in sinonasal tissue during chronic rhinosinusitis may be independent of serum 25(OH)D levels. Vitamin D may be dysregulated at multiple levels, with decreased transcription of the metabolic gene CYP27B1 and increased transcription of the catabolic gene CYP24A1. PMID: 27618536
13. More recent evidence has identified loss of function mutations in CYP24A1 in association with hypercalcemia, hypercalciuria and nephrolithiasis in humans. [review] PMID: 28093352
14. Uremic serum increased the intracellular expression of IL-6, IFN-gamma, TLR7, TLR9, VDR, CYP27b1 and CYP24a1 PMID: 28665937
15. Biallelic mutations in CYP24A1 or SLC34A1 were associated with infantile idiopathic hypercalcemia with vitamin D hypersensitivity PMID: 28470390
16. CYP24A1 association with the susceptibility of esophageal squamous cell carcinoma in a Northern Chinese population. PMID: 28362172
17. CYP24A1 was expressed in a >2-fold higher fraction of spermatozoa from normal than infertile men. PMID: 27977320
18. Our results indicate that CYP24A1, central in the degradation of the physiologically active 1,25[OH]2D, is important in the association of lower levels of 25[OH]D and increased risk of SLE. PMID: 27283331
19. Findings offer direct evidence that Cyp24a1 functions as an oncogene in PTC, where its overexpression activates multiple signaling cascades to promote malignant progression. PMID: 28242615
20. The aim of the present study was to investigate the mRNA expression levels of the CYP24A1 and CYP27B1 genes in malignant and normal breast tissues. The results demonstrated that the mRNA expression of CYP27B1 was downregulated in the tumor tissues, compared with the adjacent normal tissues (P<0.01), whereas the mRNA expression of CYP24A1 was significantly upregulated in the tumor tissues (P<0.01). PMID: 27922682
21. suppression of vitamin D metabolism following knockdown of CYP24A1 significantly reduced tumor growth in vivo. These data provide substantial evidence for a pro-survival and stimulatory oncogenic effect of CYP24A1 in breast carcinoma cells PMID: 27600601
22. confirms that CYP24A1 plays a causal role in some but not all cases of IIH (64%); (2) expands the spectrum of known CYP24A1 pathogenic mutations; (3) describes 2 hotspots detected in 50% of all Italian cases; and (4) emphasizes the importance of recognition and genetic diagnosis of CYP24A1 defects in infantile as well as adult hypercalcemia PMID: 27394135
23. Suggest Cyp24a1 promoter SNP rs2248359 is associated with severe atopic dermatitis. PMID: 26315479
24. most heterozygous CYP24A1 mutation carriers have a normal 25OHD/24,25(OH)2D ratio, are usually asymptomatic and have a normal skeletal status but may possibly be at increased risk of nephrocalcinosis PMID: 26117226
25. CYP24A1 expression is closely associated with colorectal cancer progression, and it might be a novel prognostic biomarker for CRC. PMID: 26997443
26. The CYP24A1 SNP rs927650 may be related to both circulating blood concentrations of 25-hydroxyvitamin D as well as to odds of recurrent colorectal neoplasia. PMID: 26241700
27. Results indicate that rs964293 modifies the association between estrogen and progestogen postmenopausal hormone replacement therapy and colorectal cancer risk. [Meta-Analysis] PMID: 26766742
28. A definite alteration was seen in vitamin D3-inactivating CYP24A1 gene activity in papillary thyroid carcinoma compared to their normal tissues on a relatively large patient population. PMID: 25201000
29. Vitamin D-binding protein SNPs are associated with prostate cancer; low 25(OH)D metabolism score and CYP24A1 and CYP27B1 variants are associated with grade PMID: 25488826
30. Breast cancer risk may be associated with specific vitamin D-related polymorphisms, particularly CYP24A1 and VDR. PMID: 25421379
31. CYP24A1 biallelic mutations are frequently found in patients presenting with hypercalcemia, low PTH, and renal disease. Haploinsufficiency is not associated with CYP24A1 deficiency. PMID: 26214117
32. Data show that cytochrome P450 CYP27B1 and CYP24A1 expression were significantly different between tumor and normal tissues in non-small cell lung cancer (NSCLC). PMID: 25544771
33. Data suggest that expression of CYP24A1 and cathelicidin is up-regulated in placental extravillous trophoblasts by vitamin D metabolites 1,23-dihydroxyvitamin D3 and 25-hydroxyvitamin D3. PMID: 25596923
34. propose three potential human candidate genes for voluntary physical exercise levels (MC3R, CYP24A1, and GRM8). PMID: 24821406
35. This is the first report of maternal hypercalcemia caused by a CYP24A1 mutation PMID: 25194629
36. With melanoma progression, CYP24A1 levels decreased and in advanced stages were comparable to the normal epidermis and metastases. PMID: 25334067
37. Human and rat CYP24A1 metabolize 20-hydroxyvitamin D3 to the same dihydroxyvitamin D3 products. PMID: 25727742
38. Homozygous mutations of CYP24A1 are associated with chronic hypercalcaemia and metabolism changes in chronic renal failure. PMID: 24235083
39. Five CYP24A1 sequence variants showed the significance to predict prostate cancer. PMID: 24492489
40. PRMT5-mediated repression represents a novel mechanism of negative regulation of Cyp24a1. PMID: 25324546
41. study found CYP24A1 expression was increased in papillary thyroid carcinoma compared to benign multinodular goitre; expression was further increased in stage III and IV tumours; a strong correlation found between CYP24A1 overexpression and BRAF(V600E) mutation PMID: 24382015
42. We now propose that the low potency of the intrinsic VDR-mediated activities of 25(OH)D3 can be augmented to the level of 1alpha,25(OH)2D3 without its activation through 1alpha-hydroxylation by CYP27B1, but by simply preventing its inactivation by CYP24A1. PMID: 24535953
43. Hypercalcemia occurred during the sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. PMID: 25446019
44. Case Report: CYP24A1 mutations as a cause of renal stone disease. PMID: 24875559
45. High CYP24A1 expression is associated with lung adenocarcinoma. PMID: 24736069
46. The increase in [25(OH)D] attributable to vitamin D3 supplementation may vary according to common genetic differences in vitamin D 25-hydroxylase (CYP2R1), 24-hydroxylase (CYP24A1), and the vitamin D receptor (VDR) genes. PMID: 25070320
47. we show for the first time that CYP24A1 is overexpressed in pancreatic tumors on mRNA as well as on protein level PMID: 25090635
48. Low baseline DNA methylation levels in the promoter region of CYP24A1 is associated with low vitamin D response. PMID: 24128439
49. TMPRSS2:ERG gene fusion synergizes with the VDR to induce CYP24A1 expression-limiting VDR signaling. PMID: 24926821
50. intermediates of C24-oxidation pathway of 1,25-(OH)2 D3 compete with precursor substrates for binding to the active site of the enzyme, which manifests as an accumulation of intermediates, indicating that they dissociate after each catalytic step. PMID: 24893882

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HGNC: 2602

OMIM: 126065

KEGG: hsa:1591

STRING: 9606.ENSP00000216862

UniGene: Hs.89663