GPIHBP1

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Description

The GPIHBP1 gene provides instructions for making a protein called glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1. This protein is primarily found in the liver and plays a crucial role in lipid metabolism. It acts as a bridge, facilitating the transport of cholesterol from peripheral tissues back to the liver, where it can be processed and eliminated. GPIHBP1 interacts with various proteins involved in lipid transport, including apolipoprotein A-I (ApoA-I), a key component of high-density lipoprotein (HDL). Variations or mutations in the GPIHBP1 gene can affect its function, leading to alterations in lipid metabolism and potentially contributing to various health conditions.

Associated Diseases

• Familial Hypoalphalipoproteinemia (FHLA): A rare genetic disorder characterized by low levels of HDL cholesterol, leading to increased risk of cardiovascular disease.
• Tangier Disease: A rare genetic disorder characterized by extremely low levels of HDL cholesterol, leading to accumulation of cholesterol in various tissues, particularly the tonsils and liver.
• Atherosclerosis: A condition where plaque builds up inside arteries, narrowing them and increasing the risk of heart attacks and strokes.
• Coronary Heart Disease (CHD): A condition where the coronary arteries, which supply blood to the heart, become narrowed or blocked.
• Stroke: A medical emergency that occurs when the blood supply to the brain is interrupted or reduced, causing brain damage.

Did you know?

GPIHBP1 has been shown to be involved in the regulation of inflammation, suggesting a broader role in overall health beyond lipid metabolism.