ABCA5
ABCA5 Gene: A Vital Gatekeeper for Cellular Cholesterol Transport
Description
ABCA5 (ATP-binding cassette sub-family A member 5) is a crucial gene that plays a pivotal role in transporting cholesterol from cells into the bloodstream. This process is essential for maintaining proper cholesterol levels and preventing the accumulation of harmful cholesterol plaque in arteries.
ABCA5 belongs to the ABC transporter family, proteins that use energy to pump various molecules across cell membranes. In the case of ABCA5, it transports cholesterol and other lipids from the cytoplasm of cells into lipid-poor apolipoprotein A-1 (apoA-1), which then forms nascent high-density lipoprotein (HDL) particles. These HDL particles carry cholesterol to the liver for excretion, preventing its buildup in the arteries.
Associated Diseases
Mutations in the ABCA5 gene have been linked to several inherited cholesterol disorders, including:
- Tangier disease: A rare genetic condition characterized by extremely low HDL cholesterol levels, leading to severe accumulation of cholesterol in tissues and organs, causing enlargement of the liver and spleen, neurological problems, and premature coronary artery disease.
- Familial hypoalphalipoproteinemia: Another rare disorder marked by abnormally low levels of HDL and apoA-1, resulting in premature cardiovascular disease.
- Cholesterol ester storage disease: A group of genetic disorders that impair the ability of cells to transport and store cholesterol ester, leading to the accumulation of cholesterol in macrophages, causing liver and spleen enlargement and potential neurological complications.
Did you Know ?
Individuals with certain ABCA5 gene variations have an increased risk of developing coronary artery disease (CAD). A study published in the journal "Circulation" found that people with the ABCA5 R219K variant had a 23% higher risk of CAD compared to those without the variant.
