Disease-gene associations mined from literature

Literature associating PLA2G6 and Leber hereditary optic neuropathy and dystonia

PLA2G6 [ENSP00000333142]

Intracellular membrane-associated calcium-independent phospholipase A2 beta; 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; Ankyrin repeat domain containing

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

Linkouts:  STRING  Pharos  UniProt  OMIM