Disease-gene associations mined from literature

Literature associating PLA2G6 and Leber hereditary optic neuropathy and dystonia

PLA2G6 [ENSP00000333142]

85/88 kDa calcium-independent phospholipase A2; Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide- induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose- stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2- induced chemotaxis through regulation of F-actin polymerization at the pseudopods.

Synonyms:  PLA2G6,  PLA2G6p,  hPLA2G6,  B0QYE9,  E7EX67 ...

Linkouts:  STRING  Pharos  UniProt  OMIM