DISEASES

Disease-gene associations mined from literature

Literature associating LCLAT1 and Barth syndrome

LCLAT1 [ENSP00000310551]

Lysocardiolipin acyltransferase 1; Exhibits acyl-CoA:lysocardiolipin acyltransferase (ALCAT) activity; catalyzes the reacylation of lyso-cardiolipin to cardiolipin (CL), a key step in CL remodeling (By similarity). Recognizes both monolysocardiolipin and dilysocardiolipin as substrates with a preference for linoleoyl-CoA and oleoyl-CoA as acyl donors (By similarity). Also exhibits 1-acyl-sn-glycerol-3-phosphate acyltransferase activity (AGPAT) activity; converts 1-acyl-sn-glycerol- 3- phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn- glycerol-3- phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone . Possesses both lysophosphatidylinositol acyltransferase (LPIAT) and lysophosphatidylglycerol acyltransferase (LPGAT) activities . Required for establishment of the hematopoietic and endothelial lineages (By similarity).

Synonyms:  LCLAT1,  LCLAT1p,  hLCLAT1,  C9J5S5,  C9J6F4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM