8.A.93.2.1
Transmembrane 6 superfamily 2 (TM6SF2) of 377 aas and 9 or 10 TMSs; it regulates plasma lipids. TM6SF2 variants are associated with plasma lipid traits, cardiovascular disease (CVD) and non-alcoholic fatty liver disease (NAFLD) (Li et al. 2018). The mechanisms underlying TM6SF2 regulation of lipid metabolism, involving intestinal cholesterol absorption and hepatic cholesterol biosynthesis and transport, have been discussed (Li et al. 2018). It may be involved in nonalcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD) (Di Sessa et al. 2021); Longo et al. 2021). TM6SF2 and SAMM50 are associated with the development and severity of pediatric NAFLD. The impact of genetic variants is greater in overweight children. Four genetic variants have synergetic effects on the severity of pediatric NAFLD (Lee et al. 2022). Genetic polymorphisms in TM6SF2 predispose organisms to a higher risk of liver diseases (Rivera-Iñiguez et al. 2022). It  regulates uptake of sterols via NPC1 (TC# 2.A.6.6.1) and is a neuropathic pain target (Yousuf et al. 2023).  TM6SF2 plays a role in processing of liver triglycerides and in the metabolism of VLDL (Liu et al. 2024).