PLA2G7

Gene Information
 
Gene Symbol
PLA2G7
 
Aliases
LDL-PLA2, LP-PLA2, PAFAD, PAFAH
 
Entrez Gene ID
 
Gene Name
Phospholipase A2 group VII
 
Chromosomal Location
6p12.3
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0034374 Biological process Low-density lipoprotein particle remodeling IDA 8624782
GO:0034440 Biological process Lipid oxidation IDA 8624782
GO:0034441 Biological process Plasma lipoprotein particle oxidation IDA 8624782
GO:0046469 Biological process Platelet activating factor metabolic process IDA 8624782
GO:0050729 Biological process Positive regulation of inflammatory response TAS 8624782
Protein Information
 
Protein Name
Platelet-activating factor acetylhydrolase, 1-alkyl-2-acetylglycerophosphocholine esterase, 2-acetyl-1-alkylglycerophosphocholine esterase, LDL-PLA(2), LDL-associated phospholipase A2, PAF 2-acylhydrolase, PAF acetylhydrolase, gVIIA-PLA2, group-VIIA phospholipase A2, lipoprotein-associated phospholipase A2, phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
 
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
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF03403 PAF-AH_p_II
Pathways
 
KEGG
 
Reactome
 

Ether lipid metabolism
Metabolic pathways

 

Synthesis, secretion, and deacylation of Ghrelin

Interactions
 
STRING MINT IntAct
ENSP00000287820 P37231 P37231
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Coronary heart disease
Acute Coronary Syndrome
Endocrine System Diseases
PCOS
Nervous System Diseases
Stroke
Nutritional and Metabolic Diseases
Inborn Errors of Metabolism
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS 
G994T 
Rotterdam criteria 
Related 
661 (346 Chinese Han women with PCOS and 315 Chinese Han controls) 
The G994T polymorphism in PAFAH gene may be one of the genetic determinants for PCOS in Chinese Han women 

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