Disease-gene associations mined from literature

Literature associating MBOAT1 and brachydactyly-syndactyly syndrome

MBOAT1 [ENSP00000324944]

Membrane-bound O-acyltransferase domain-containing protein 1; Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L- serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3- phospho-L-serine or PS) (LPSAT 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:  MBOAT1,  MBOAT1p,  hMBOAT1,  Q6ZNC8,  OACT1 ...

Linkouts:  STRING  Pharos  UniProt