TM6SF2 [SEP] found in taxon
TM6SF2
TM6SF2 is the Transmembrane 6 superfamily 2 human gene which codes for a protein by the same name. This gene is otherwise called KIAA1926. Its exact function is currently unknown.
Location.
TM6SF2 is located on chromosome 19 precisely at locus 19p13.3-p12. It is flanked by SUGP1 (a SURP and G-Patch Domain-Containing protein thought to play a role in pre-mRNA splicing ) and HAPLN4 (a hyaluronan and proteoglycan link protein 4 that binds to hyaluronic acid and may be involved in formation of the
. Through this study, she found that variations in the gene PCSK9 led to lower plasma cholesterol and protection from cardiovascular disease. Another major focus of her career is to understand the basis of fatty liver disease. She and Jonathan Cohen have shown that variations in the DNA sequences of PNPLA3 and TM6SF2 confer susceptibility to fatty liver disease, soon to be the number one indication for liver transplantation.