Description | This family includes transmembrane 6 superfamily members 1 (TM6SF1) and 2 (TM6SF2), and similar proteins. TM6SF1 is a widely expressed lysosomal transmembrane protein that may be suitable as a lysosomal marker [ ]. These proteins act as regulators of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content [, ] which may function as sterol isomerases []. Polymorphism of its paralog, TM6SF2, has been associated with the risk for hepatocellular carcinoma, and a variant of the gene has been found to impact the processing of lipids in the liver and the small intestine, causing non-alcoholic fatty liver disease (NAFLD) [ , , , , , , ]. | Name | Transmembrane 6 superfamily member 1/2 |
Short Name | TM6SF1-like | Type | Family |