ABCA13
ABCA13: A Vital Transporter Protein
Description
ABCA13 is a member of the ATP-binding cassette transporter superfamily, a group of proteins responsible for transporting various molecules across cell membranes. Specifically, ABCA13 is involved in the transport of phospholipids, cholesterol, and other lipids. It is primarily expressed in the liver and plays a crucial role in maintaining lipid homeostasis.
Associated Diseases
Defects in the ABCA13 gene can lead to several human disorders:
- Tangier Disease: A rare genetic condition characterized by extremely low levels of HDL ("good cholesterol"), leading to deposition of cholesterol in the spleen, liver, and other organs.
- Familial Hypoalphalipoproteinemia: A condition similar to Tangier disease but with higher HDL levels.
- Macular Degeneration: Some studies suggest a link between ABCA13 mutations and age-related macular degeneration, a leading cause of vision loss in the elderly.
Did you Know ?
Individuals with Tangier disease have almost no HDL cholesterol. This condition demonstrates the critical role of ABCA13 in maintaining HDL levels, which are essential for removing cholesterol from the arteries and reducing the risk of heart disease.
