EC Number   |
Application |
Reference |
|---|
    1.14.14.24 | medicine |
experimental autoimmune encephalomyelitis development is markedly suppressed in mice lacking the vitamin D receptor and partially suppressed in vitamin D-insufficient mice. The absence of either of the two key hydroxylases, i.e., 25-hydroxylase and 1alpha-hydroxylase, neither inhibits nor enhances the development of experimental autoimmune encephalomyelitis |
718332 |
| 1.14.14.24 | medicine |
genes CYP2R1 encoding vitamin D 25-hydroxylase, CYP27B1 encoding 25-hydroxyvitamin D-1 alpha hydroxylase and CYP24A1 encoding 1,25-dihydroxyvitamin D(3) 24-hydroxylase are upregulated in clear cell renal cell carcinomas compared with normal tissue. CYP24A1 displays a significantly higher expression in tumours than CYP27B1 and CYP2R1, whereas no differences in the expression of these genes are found in healthy renal tissue. Gene expression of CYP2R1, CYP27B1 and CYP24A does not differ between pathological classifications |
724907 |
| 1.14.14.24 | medicine |
mutation L99P has been identified in a patient with low circulating levels of 25-hydroxyvitamin D and classic symptoms of vitamin D deficiency. This individual is homozygous for a transition mutation in exon 2 of the CYP2R1 gene on chromosome 11p15.2, leading to the substitution of a proline for an evolutionarily conserved leucine and eliminating vitamin D 25-hydroxylase enzyme activity |
718313 |
| 1.14.14.24 | medicine |
testis samples from patients with hypospermatogenesis and Sertoli-cell-only syndrome show a lower gene and protein expression of isoform CYP2R1 and a colocalization with INSL-3, a Leydig cell marker. In all testiculopathic patients 25-hydroxyvitamin D levels are significantly lower and parathyroid hormone levels higher compared to controls. Testiculopathic patients show osteopenia and osteoporosis despite normal testosterone levels compared with controls both with increased bone-marker levels and altered dual-energy X-ray absorptiometry in the femoral neck and lumbar spine |
725609 |
| 1.14.14.24 | medicine |
vitamin D analogus can be potential therapeutic agents to control oral squamous cell carcinoma tumor cell tumor progression |
736222 |
