rs58542926
rs58542926 is a missense variant in TM6SF2 producing the Glu167Lys (E167K) amino-acid substitution, one of the most replicated genetic determinants of fatty liver disease. The lysine-substituted protein misfolds and is degraded faster than the wild-type protein, impairing TM6SF2's role in hepatic very-low-density lipoprotein secretion; this raises intrahepatic triglyceride content while lowering circulating LDL cholesterol and triglycerides. It is used with PNPLA3 rs738409 to assess genetic risk for non-alcoholic fatty liver disease (NAFLD).
Traits rs58542926 reads
Gene
Reference databases
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