DISEASES

Disease-gene associations mined from literature

Literature associating PNPLA2 and ichthyosis

PNPLA2 [ENSP00000337701]

Patatin-like phospholipase domain-containing protein 2; 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; Lipases

Synonyms:  PNPLA2,  PNPLA2p,  hPNPLA2,  Q96AD5,  ATGL ...

Linkouts:  STRING  Pharos  UniProt  OMIM