Desmosterolosis
Encyclopedia
Desmosterolosis is a defect in cholesterol
biosynthesis.
It has been associated with 24-dehydrocholesterol reductase
.
It results in an accumulation of desmosterol
.
Cholesterol
Cholesterol is a complex isoprenoid. Specifically, it is a waxy steroid of fat that is produced in the liver or intestines. It is used to produce hormones and cell membranes and is transported in the blood plasma of all mammals. It is an essential structural component of mammalian cell membranes...
biosynthesis.
It has been associated with 24-dehydrocholesterol reductase
24-dehydrocholesterol reductase
24-dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.-Further reading:...
.
It results in an accumulation of desmosterol
Desmosterol
Desmosterol is a molecule similar to cholesterol. It is accumulated in desmosterolosis....
.