TM6SF2
Overview[edit | edit source]
TM6SF2 (Transmembrane 6 Superfamily Member 2) is a protein encoded by the TM6SF2 gene in humans. This protein is involved in lipid metabolism and has been associated with various liver-related conditions, including non-alcoholic fatty liver disease (NAFLD) and cardiovascular diseases.
Gene and Protein Structure[edit | edit source]
The TM6SF2 gene is located on chromosome 19 and encodes a protein that is part of the transmembrane 6 superfamily. The protein consists of multiple transmembrane domains, which suggests its role in cellular transport processes.
Function[edit | edit source]
TM6SF2 is primarily expressed in the liver and small intestine. It plays a crucial role in lipid metabolism by influencing the secretion of very low-density lipoproteins (VLDL) and triglycerides. Variants in the TM6SF2 gene can lead to altered lipid profiles, affecting the risk of developing liver diseases and cardiovascular conditions.
Clinical Significance[edit | edit source]
Non-Alcoholic Fatty Liver Disease (NAFLD)[edit | edit source]
Variants in the TM6SF2 gene, particularly the E167K variant, have been linked to an increased risk of NAFLD. This variant is associated with higher liver fat content and can lead to more severe liver conditions such as non-alcoholic steatohepatitis (NASH) and cirrhosis.
Cardiovascular Disease[edit | edit source]
The E167K variant of TM6SF2 is also associated with a reduced risk of cardiovascular disease. This paradoxical effect is due to the variant's influence on lipid metabolism, which results in lower levels of circulating lipids that are risk factors for cardiovascular disease.
Research and Studies[edit | edit source]
Recent studies have focused on the role of TM6SF2 in lipid metabolism and its potential as a therapeutic target for liver diseases. Understanding the mechanisms by which TM6SF2 influences lipid profiles could lead to new treatments for NAFLD and related conditions.
Genetic Variants[edit | edit source]
The most studied variant of TM6SF2 is the E167K polymorphism. This single nucleotide polymorphism (SNP) results in an amino acid substitution that affects the protein's function in lipid metabolism.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD
