EC Number   |
General Information |
Reference |
|---|
    1.3.1.72 | malfunction |
(A-I)rHDL-mediated induction of HO-1 is reduced in human coronary artery endothelial cells transfected with DHCR24 siRNA. The activation of phosphatidylinositol 3-kinase/Akt by (A-I)rHDL is decreased in human coronary artery endothelial cells that are transfected with DHCR24 siRNA |
744737 |
| 1.3.1.72 | malfunction |
2-152a MAb-mediated binding of a cytotoxic agent (a saponin-conjugated secondary antibody) to surface DHCR24 leads to significant cytotoxicity. HCV replication can be suppressed by inhibiting DHCR24 with an enzymatic inhibitor |
746181 |
| 1.3.1.72 | malfunction |
DHCR24 knockout mice die within a few hours after birth. Cultured metatarsal bones from newborn knockout mice show a significant retarded growth. Absence of proliferating chondrocytes in the growth plate and abnormal hypertrophy of prehypertrophic chondrocytes are observed in the bones from knockout mice |
725591 |
| 1.3.1.72 | malfunction |
DHCR24 overexpressed in CHO cells show that untreated CHO-DHCR24 cells have a higher cholesterol to desmosterol ratio. In the CHO-DHCR24 cells, more 24(S),25-epoxycholesterol is required to attain the same cholesterol to desmosterol ratio as in CHO cells expressing an empty vector. Thus, with DHCR24 overexpression, the effect of 24(S),25-epoxycholesterol on the cholesterol to desmosterol ratio is blunted |
724442 |
| 1.3.1.72 | malfunction |
enzyme inhibition leads to increased inflammation resolution and selectively decreases proinflammatory cell influx |
765679 |
| 1.3.1.72 | malfunction |
insulin-induced reactive oxygen species production is enhanced by siRNA for DHCR24 |
725591 |
| 1.3.1.72 | malfunction |
loss of DHCR24 results in severe developmental and growth defects. Missense mutations in DHCR24, which result in diminished protein activity, can lead to a rare autosomal recessive disorder, desmosterolosis. The single nucleotide polymorphism, rs600491 (T allele) is significantly correlating with Alzheimer's disease risk in men. Four single nucleotide polymorphisms in the DHCR24 promoter correlate with hepatitis C virus (HCV) induced hepatocellular carcinoma and cirrhosis. The enzyme can be involved in Alzheimer's disease and is downregulated in affected regions of Alzheimer's disease (AD) brains, Overexpressing DHCR24 in cell culture protects cells from apoptosis, through inhibiting caspase-3 and amyloid beta toxicity. DHCR24 is implicated in the anti-inflammatory effects of HDL and resulting cardiovascular disease. Altered expression of a subset of androgen receptor-related genes, such as DHCR24, is observed in prostate cancer, overexpression of DHCR24 is a hallmark of prostate cancer, with high levels observed in low-grade prostate cancer, which diminish as the cancer progresses to a higher grade |
746354 |
| 1.3.1.72 | malfunction |
loss of DWF1 results in severe developmental and growth defects |
746354 |
| 1.3.1.72 | malfunction |
mutating residues T110, Y299, and Y507 of known phosphorylation sites inhibits DHCR24 activity. Seven missense mutations in DHCR24 have been described in desmosterolosis: R94H, R103C, E191K, N294T, K306N, Y471S, E480K. PKC inhibition results in desmosterol accumulation |
745512 |
| 1.3.1.72 | malfunction |
overexpression of DHCR24 enhances 7-dehydrocholesterol reductase, DHCR7, activity, but only when a functional form of DHCR24 is used. When the DHCR24 gene is knocked down by siRNA, DHCR7 activity is also ablated. Knockdown of DHCR7 has no effect on DHCR24 activity, while knockdown of DHCR24 decreases DHCR7 activity by about 60% |
745515 |
