
**NCBI Gene Summary**: 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**: PNPLA2 (Patatin Like Phospholipase Domain Containing 2) is a Protein Coding gene. Diseases associated with PNPLA2 include Neutral Lipid Storage Disease With Myopathy and Primary Triglyceride Deposit Cardiomyovasculopathy. Among its related pathways are Glycerophospholipid biosynthesis and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Gene Ontology (GO) annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is PNPLA3.

**UniProtKB/Swiss-Prot Summary**: Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets [PMID: 15550674, PMID: 15364929, PMID: 16150821, PMID: 17603008, PMID: 16239926, PMID: 34903883]. Exhibits a strong preference for the hydrolysis of long-chain fatty acid esters at the sn-2 position of the glycerol backbone and acts coordinately with LIPE/HLS and DGAT2 within the lipolytic cascade. Also possesses acylglycerol transacylase and phospholipase A2 activities [PMID: 15364929, PMID: 17032652, PMID: 17603008]. Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides [PMID: 17603008]. Regulates adiposome size and may be involved in the degradation of adiposomes [PMID: 16239926]. 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. Catalyzes the formation of an ester bond between hydroxy fatty acids and fatty acids derived from triglycerides or diglycerides to generate fatty acid esters of hydroxy fatty acids (FAHFAs) in adipocytes [PMID: 35676490].
