[HTML][HTML] Inactivation of Tm6sf2, a gene defective in fatty liver disease, impairs lipidation but not secretion of very low density lipoproteins
A missense mutation (E167K) in TM6SF2 (transmembrane 6 superfamily member 2), a
polytopic protein of unknown function, is associated with the full spectrum of fatty liver
disease. To investigate the role of TM6SF2 in hepatic triglyceride (TG) metabolism, we
inactivated the gene in mice. Chronic inactivation of Tm6sf2 in mice is associated with
hepatic steatosis, hypocholesterolemia, and transaminitis, thus recapitulating the phenotype
observed in humans. No dietary challenge was required to elicit the phenotype …
polytopic protein of unknown function, is associated with the full spectrum of fatty liver
disease. To investigate the role of TM6SF2 in hepatic triglyceride (TG) metabolism, we
inactivated the gene in mice. Chronic inactivation of Tm6sf2 in mice is associated with
hepatic steatosis, hypocholesterolemia, and transaminitis, thus recapitulating the phenotype
observed in humans. No dietary challenge was required to elicit the phenotype …