Disease-gene associations mined from literature

Literature associating MBOAT2 and nephrotic syndrome type 7

MBOAT2 [ENSP00000302177]

Membrane-bound O-acyltransferase domain-containing protein 2; Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3- phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2- diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle; Membrane bound O-acyltransferases

Synonyms:  MBOAT2,  MBOAT2p,  hMBOAT2,  B0AZU0,  C9J2H7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM