| Tangier disease |
A genetic disorder that is characterized by a defect in the efflux of cholesterol and its associated esters to high-density lipoproteins. The disease was first identified in a five-year-old inhabitant of the island of Tangier, located off the coast of Virginia, USA.
출처: www.nature.com/nrm/journal/v6/n3/glossary/nrm1591_...
|
|---|---|
| Tangier disease |
Genetic disorder of cholesterol transport is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. ABC1 codes for a protein that helps rid cells of excess cholesterol. This cholesterol is then picked up by HDL particles in the blood and carried to the liver, which processes the cholesterol to be reused in cells throughout the body. Individuals with Tangier disease are unable to eliminate cholesterol from cells, leading to its buildup in the tonsils and other organs.
출처: www.solvo.hu/glossary.html
|