This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010].
custom-made
PNPLA2
宿主: 小鼠
宿主: Cell-free protein synthesis (CFPS)
Recombinant
approximately 70-80 % as determined by SDS PAGE, Western Blot and analytical SEC (HPLC).
WB, SDS, ELISA
custom-made
PNPLA2
宿主: 人
宿主: Cell-free protein synthesis (CFPS)
Recombinant
approximately 70-80 % as determined by SDS PAGE, Western Blot and analytical SEC (HPLC).
WB, SDS, ELISA
Tavian, Missaglia, Redaelli, Pennisi, Invernici, Wessalowski, Maiwald, Arca, Coleman: "Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function." in: Human molecular genetics, Vol. 21, Issue 24, pp. 5318-28, (2012) (PubMed).