EC Number   |
General Information |
Reference |
|---|
    1.3.1.21 | malfunction |
enzyme absence leads to the devastating fetal developmental disorder Smith-Lemli-Opitz syndrome |
740101 |
| 1.3.1.21 | malfunction |
mutations in the enzyme gene lead to the developmental disease Smith-Lemli-Opitz syndrome which can also result in fetal mortality |
741356 |
| 1.3.1.21 | malfunction |
the Lemli-Opitz syndrome results from mutations in the 7-dehydrocholesterol reductase gene |
741102 |
| 1.3.1.21 | metabolism |
the enzyme catalyzes the final step of cholesterol synthesis via the Kandutsch-Russell pathway, and is crucial in maintaining cellular cholesterol levels |
740101 |
| 1.3.1.21 | metabolism |
the enzyme exerts complex biological effects, involved in both cholesterol and vitamin D production |
741356 |
| 1.3.1.21 | metabolism |
the enzyme is important for both cholesterol and vitamin D synthesis |
740837 |
| 1.3.1.21 | more |
dehydrosterol reductase, DHCR7, deficiency is associated with Smith-Lemli-Opitz syndrome, phenotype, overview. In DHCR7 deficient mice, dehydrodesmosterol, a uniquely major sterol component in hair, is the dominant hair DELTA7 sterol |
-, 712886 |
| 1.3.1.21 | physiological function |
a knock out strain shows no differences in growth rates nor cell shape, neither in the presence nor in the absence of added sterols.Sterols found in wild-type are 83.44% cholesta-5,7,22-trien-3beta-ol as the major derivative, besides cholesterol itself, 0.55% cholesta-5,7-dien-3beta-ol and 3.84% cholesta-5,22-dien-3beta-ol. In contrast, in the KODES7 cell line, the only conversion product recovered is 92.76% 22-dehydrocholesterol |
725923 |
| 1.3.1.21 | physiological function |
by controlling dafachronic acid production, enzyme DAF-36 regulates activities of nuclear receptor DAF-12 for reproductive development and longevity. Mutants deficient for the enzyme lack 7-dehydrocholesterol, revealing a 6.5fold decrease relative to wild-type, and accumulate the putative precursor, cholesterol, by 3fold. The ligand of nuclear receptor DAF-12, DELTA7-dafachronic acid, is also undetectable in the mutants, while DELTA4-dafachronic acid is below the detection limit in both wild-type and mutant |
723904 |
| 1.3.1.21 | physiological function |
construction of an adeno-associated virus vector containing the DHCR7 gene and infusion of this vector into mice deficient for the enzyme leads to identification of the introduced DHCR7 gene in liver, expression of mRNA production of a functional enzyme. Evidence of functionality comes from the ability to partially normalize the serum ratio of 7-dehydrocholesterol/cholesterol in treated animals, apparently by increasing cholesterol production with concomitant decrease in the 7-dehydrocholesterol precursor. By five weeks after treatment the mean ratio for 7 animals has fallen to 0.05 while the ratio for untreated littermate controls has risen to 0.14 |
725815 |
