DISEASES

Disease-gene associations mined from literature

Literature associating PLAAT3 and amblyopia

PLAAT3 [ENSP00000320337]

Phospholipase A and acyltransferase 3; Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19615464, PubMed:19047760, PubMed:22825852, PubMed:22605381, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19615464, PubMed:19047760, PubMed:22825852, PubMed:22605381, PubMed:22923616). For most substrates, PLA1 activity is much higher than PLA2 activity . Shows O-acyltransferase activity,catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid . Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N- acylphosphatidylethanolamine (NAPE), which serves as precursor for N- acylethanolamines (NAEs) (PubMed:19615464, PubMed:19047760, PubMed:22825852, PubMed:22605381). Exhibits high N-acyltransferase activity and low phospholipase A1/2 activity . ECO:0000269|PubMed:22605381, ECO:0000269|PubMed:22825852,; Belongs to the H-rev107 family.

Synonyms:  PLAAT3,  PLAAT3p,  hPLAAT3,  A0A024R561,  A0A1W2PRW4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM