ABCA1

The gene that impacts Tangier disease is called the ABCA1 gene. This gene codes for proteins that transport molecules across membranes. They're like the car engineers of the gene world. 

This protein that is made by ABCA1 is found mainly in the liver and spleen, with small amounts throughout the rest of the body. 

This protein then combines with other proteins to form HDL, the good cholesterol. 

HDL carries phospholipids and LDL, the bad cholesterol, through the blood stream and to the liver, where it is broken down as waste. This helps lower the amount of bad cholesterol in blood and keep us healthy by lowering our risk for heart disease. 

However, when the gene is mutated, or formed differently than it is supposed to, we end up with Tangier disease. 

This disease significantly lowers the amount of HDL we have in our blood due to the inability to produce the protein required to help produce it, is unable to be produced. 

With Tangier disease, there is often an increased risk for developing heart disease later in life due to the increased amounts of LDL and decreased amounts of HDL. 

Below, you can see a visual representation of the ABCA1 gene. 

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