Ontology highlight
ABSTRACT:
SUBMITTER: Zhang X
PROVIDER: S-EPMC6160302 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Zhang Xiaoyu X Liu Shousheng S Dong Quanjiang Q Xin Yongning Y Xuan Shiying S
Journal of clinical and translational hepatology 20180907 3
The transmembrane 6 superfamily member 2 (<i>TM6SF2</i>) gene E167K variant (rs58542926) was identified by exome-wide association study as a nonsynonymous single nucleotide polymorphism associated with nonalcoholic fatty liver disease. The <i>TM6SF2</i> E167K variant features a C-to-T substitution at nucleotide 499, encoding a glutamate with lysine change at codon 167 (E167K). <i>TM6SF2</i> is markedly expressed in the liver, small intestine and kidney, and has been proposed as an important risk ...[more]