ABCD2
Title: abcd2: A Gene with a Crucial Role in Health and Disease
Description:
abcd2 is a gene that plays a significant role in various cellular processes, including cholesterol transport, lipid metabolism, and immune response. This versatile gene is found on chromosome 16q22.1 and encodes a protein known as ATP-binding cassette sub-family D member 2.
Associated Diseases:
Mutations in the abcd2 gene have been linked to several health conditions, including:
- Tangier Disease: A rare genetic disorder characterized by near-complete absence of high-density lipoprotein (HDL) cholesterol and accumulation of cholesterol esters in various organs.
- Cardiovascular Disease: abcd2 is involved in the reverse transport of cholesterol from peripheral tissues back to the liver. Reduced abcd2 activity can lead to plaque formation in arteries, increasing the risk of heart attacks and strokes.
- Inflammatory Bowel Disease (IBD): abcd2 is expressed in immune cells and plays a role in regulating inflammation. Alterations in abcd2 expression have been associated with the development of IBD, particularly Crohn‘s disease.
Did you Know ?
A study revealed that individuals with a specific genetic variant in abcd2 have a 37% increased risk of developing cardiovascular disease compared to those without the variant.
