Aliases for PNPLA2 Gene
External Ids for PNPLA2 Gene
Previous GeneCards Identifiers for PNPLA2 Gene
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]
GeneCards Summary for PNPLA2 Gene
PNPLA2 (Patatin-Like Phospholipase Domain Containing 2) is a Protein Coding gene. Diseases associated with PNPLA2 include neutral lipid storage disease with myopathy and lipid storage disease. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is PNPLA4.
UniProtKB/Swiss-Prot for PNPLA2 Gene
Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion.