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If the ABCA1 transport protein does not function properly, it can lead to impaired cholesterol efflux from cells, particularly in macrophages. This dysfunction is associated with a decrease in high-density lipoprotein (HDL) levels, which increases the risk of atherosclerosis and cardiovascular diseases. Additionally, mutations in the ABCA1 gene can result in familial HDL deficiency and Tangier disease, conditions characterized by low HDL cholesterol and accumulation of cholesterol in tissues. Overall, the lack of ABCA1 activity disrupts lipid homeostasis and contributes to various health issues.
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What happens if ABCA1 does not function?
If ABCA1 (ATP-binding cassette sub-family A member 1) does not function properly, it can lead to impaired cholesterol and phospholipid efflux from cells, resulting in reduced formation of high-density lipoprotein (HDL) particles. This dysfunction is associated with an increased risk of cardiovascular diseases, as it can cause cholesterol accumulation in macrophages, leading to atherosclerosis. Additionally, mutations in the ABCA1 gene can result in conditions like Tangier disease, characterized by very low levels of HDL and associated health complications.
What is ABCA 1?
According to the NIH library: this gene belongs to a group of genes which provides instructions for making proteins that transport molecules across cell membranes. The ABCA1 protein is produced in many tissues, with high amounts found in the liver and in immune system cells called macrophages. This protein moves cholesterol and certain fats called phospholipids across the cell membrane to the outside of the cell.
