TM6SF2
TM6SF2 (transmembrane 6 superfamily member 2) encodes a multi-pass endoplasmic reticulum protein expressed mainly in liver and intestine that regulates hepatic lipidation and secretion of triglyceride-rich, apoB-containing lipoproteins (VLDL). The common loss-of-function variant rs58542926 (E167K) reduces VLDL secretion, causing triglyceride to accumulate as hepatic lipid droplets, which is why this variant is a well-established genetic risk factor for non-alcoholic fatty liver disease (NAFLD) and its progression to fibrosis.
Traits TM6SF2 shapes
Markers (rsIDs)
Reference databases
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