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MGP003432

UniProt Annotations

Entry Information

Gene Name	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
Protein Entry	PAFA_HUMAN
UniProt ID	Q13093
Species	Human

Comments

Comment type	Description
Catalytic Activity	1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetate.
Disease	Asthma (ASTHMA) [MIM:600807]: 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 wheezing due to spasmodic contraction of the bronchi. {ECO:0000269\|PubMed:10733466}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease	Atopic hypersensitivity (ATOPY) [MIM:147050]: A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease	Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278]: An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. It can be associated with several disease states including inflammatory gastrointestinal disorders, asthma and atopy. Asthmatic individuals with PAFAD may manifest aggravated respiratory symptoms. {ECO:0000269\|PubMed:8675689, ECO:0000269\|PubMed:9245731, ECO:0000269\|PubMed:9412624, ECO:0000269\|PubMed:9472966, ECO:0000269\|PubMed:9759612}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	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.
Similarity	Belongs to the AB hydrolase superfamily. Lipase family. {ECO:0000305}.
Subcellular Location	Secreted, extracellular space.
Tissue Specificity	Plasma.
Web Resource	Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pla2g7/";