What happens if the ABCA1 transport protein does not function?

Answer 1

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.