PLA2G7 Antibody – Mouse Monoclonal

The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

PLA2G7: Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids. Defects in PLA2G7 are the cause of platelet-activating factor acetylhydrolase deficiency (PAFAD). An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. Asthmatic individuals affected by this condition may manifest severe respiratory symptoms. Defects in PLA2G7 are a cause of susceptibility to asthma (ASTHMA). The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with weezing due to spasmodic contraction of the bronchi. PLA2G7 variants can be a risk factor for the development of asthma and PLA2G7 may act as a modifier gene that modulates the severity of this disease. Defects in PLA2G7 are a cause of susceptibility to atopic hypersensitivity (ATOPY). A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma. Belongs to the AB hydrolase superfamily. Lipase family.

Protein type: Secreted, signal peptide; Lipid Metabolism - ether lipid; EC 3.1.1.47; Secreted; Hydrolase

Chromosomal Location of Human Ortholog: 6p21.2-p12

Cellular Component: cytoplasm; extracellular region

Molecular Function: calcium-independent phospholipase A2 activity; phospholipid binding; 1-alkyl-2-acetylglycerophosphocholine esterase activity

Biological Process: cellular protein metabolic process; lipid catabolic process; positive regulation of inflammatory response

Disease: Asthma, Susceptibility To; Ige Responsiveness, Atopic; Platelet-activating Factor Acetylhydrolase Deficiency