| Tchem | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial |
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Comments
Property Summary
| NCBI Gene PubMed Count | 155 |
| Grant Count | 105 |
| R01 Count | 62 |
| Funding | $8,744,871.41 |
| PubMed Score | 753.37 |
| PubTator Score | 416.68 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | -2.900 | 0.000 |
| cystic fibrosis | -3.553 | 0.000 |
| periodontitis | 1.400 | 0.000 |
| non-small cell lung carcinoma | 2.300 | 0.000 |
| lung cancer | 4.800 | 0.000 |
| lung adenocarcinoma | 3.200 | 0.000 |
| psoriasis | 3.500 | 0.000 |
CHEMBL363039
pIC50 6.05
CHEMBL3344401
pKi 6.13
CHEMBL3344399
pKi 6.14
CHEMBL3344403
pKi 6.19
CHEMBL3329779
pIC50 6.22
CHEMBL1627205
pIC50 6.26
CHEMBL3344402
pKi 6.27
CHEMBL3344397
pIC50 6.28
CHEMBL3344396
pIC50 6.28
CHEMBL3329771
pIC50 6.29
CHEMBL3344393
pIC50 6.36
CHEMBL3329775
pKi 6.40
CHEMBL1171494
pIC50 6.40
CHEMBL3329776
pKi 6.42
CHEMBL3344392
pIC50 6.44
CHEMBL3329768
pIC50 6.47
CHEMBL3344398
pKi 6.47
CHEMBL3329767
pIC50 6.59
CHEMBL3344400
pKi 6.64
CHEMBL3329777
pKi 6.68
| PMID | Text |
|---|---|
| 26997443 | CYP24A1 expression is closely associated with colorectal cancer progression, and it might be a novel prognostic biomarker for CRC. |
| 26766742 | Results indicate that rs964293 modifies the association between estrogen and progestogen postmenopausal hormone replacement therapy and colorectal cancer risk. [Meta-Analysis] |
| 26241700 | 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. |
| 26214117 | CYP24A1 biallelic mutations are frequently found in patients presenting with hypercalcemia, low PTH, and renal disease. Haploinsufficiency is not associated with CYP24A1 deficiency. |
| 26117226 | 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 |
| 25727742 | Human and rat CYP24A1 metabolize 20-hydroxyvitamin D3 to the same dihydroxyvitamin D3 products. |
| 25596923 | 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. |
| 25544771 | Data show that cytochrome P450 CYP27B1 and CYP24A1 expression were significantly different between tumor and normal tissues in non-small cell lung cancer (NSCLC). |
| 25488826 | 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 |
| 25446019 | Hypercalcemia occurred during the sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. |
| More... |
MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSL 1 - 70 LQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDY 71 - 140 RKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKW 141 - 210 SFESICLVLYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFK 211 - 280 SVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQ 281 - 350 KLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQ 351 - 420 VLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDN 421 - 490 EPVEMLHSGTLVPSRELPIAFCQR 491 - 514 //
| PMID | Year | Title |
|---|---|---|
| 26997443 | 2016 | CYP24A1 is a potential biomarker for the progression and prognosis of human colorectal cancer. |
| 26766742 | 2016 | CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk. |
| 26241700 | 2015 | CYP24A1 and CYP27B1 Polymorphisms, Concentrations of Vitamin D Metabolites, and Odds of Colorectal Adenoma Recurrence. |
| 26214117 | 2015 | CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. |
| 26117226 | 2015 | Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. |
| 25727742 | 2015 | Metabolism of 20-hydroxyvitamin D3 and 20,23-dihydroxyvitamin D3 by rat and human CYP24A1. |
| 25596923 | 2015 | Vitamin D promotes human extravillous trophoblast invasion in vitro. |
| 25544771 | 2015 | Genetic polymorphisms in the vitamin D pathway in relation to lung cancer risk and survival. |
| 25488826 | 2015 | Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case-control study. |
| 25446019 | 2015 | Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. |
| More... |
