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Gene Symbol |
PLA2G7 |
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Aliases |
LDL-PLA2, LP-PLA2, PAFAD, PAFAH |
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Entrez Gene ID |
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Gene Name |
Phospholipase A2 group VII |
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Chromosomal Location |
6p12.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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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) |
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Function |
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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 |
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UniProt |
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PDB |
3D59, 3D5E, 3F96, 3F97, 3F98, 3F9C, 5I8P, 5I9I, 5JAD, 5JAH, 5JAL, 5JAN, 5JAO, 5JAP, 5JAR, 5JAS, 5JAT, 5JAU, 5LP1, 5LYY, 5LZ2, 5LZ4, 5LZ5, 5LZ7, 5LZ8, 5LZ9, 5YE7, 5YE8, 5YE9, 5YEA |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF03403 |
PAF-AH_p_II |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000287820 |
P37231 |
P37231 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Coronary heart disease |
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| Acute Coronary Syndrome |
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| Endocrine System Diseases |
| PCOS |
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| Nervous System Diseases |
| Stroke |
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| Nutritional and Metabolic Diseases |
| Inborn Errors of Metabolism |
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| Psychiatric/Brain disorders |
| Schizophrenia |
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| Reproductive disorders |
| Preeclampsia |
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| Respiratory Tract Diseases |
| Platelet-activating factor acetylhydrolase deficiency |
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| Asthma |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS |
G994T |
Rotterdam criteria |
Related
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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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