| Primary Identifier | IPR033903 | Type | Domain |
| Short Name | PNPLA2 |
| description | Patatin-like phospholipase domain-containing protein 2 (PNPLA2) plays a key role in hydrolysis of stored triacylglecerols and is also known as adipose triglyceride lipase (ATGL) []. Members of this family share a patatin domain, initially discovered in potato tubers [, ]. ATGL is expressed in white and brown adipose tissue in high mRNA levels. Mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) leads to neutral lipid storage disease (NLSD) which is characterized by the accumulation of triglycerides in multiple tissues []. ATGL mutations are also commonly associated with severe forms of skeletal- and cardio-myopathy. ATGL is regulated by insulin []. PNPLA2/ATGL is also known as TTS-2.2 (transport-secretion protein 2.2), iPLA2-zeta (calcium-independent phospholipase A2), and desnutrin [, , ]. |
