Article
The minor allele of the missense polymorphism Ser251Pro in perilipin 2 (PLIN2) disrupts an α-helix, affects lipolysis, and is associated with reduced plasma triglyceride concentration in humans.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Aug 2013
Magné Joëlle, Aminoff Anna, Perman Sundelin Jeanna, Mannila Maria Nastase, Gustafsson Peter, Hultenby Kjell, Wernerson Annika, Bauer Greta, Listenberger Laura, Neville Matt J, Karpe Fredrik, Borén Jan, Ehrenborg Ewa
Abstract excerpt
Perilipin 2 (PLIN2) is the most abundant lipid droplet (LD)-associated protein in nonadipose tissue, and its expression correlates with intracellular lipid accumulation. Here we identified a missense polymorphism, Ser251Pro, that has major effect on protein structure and function, along with an i...
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