Disease-gene associations mined from literature

Literature associating DGAT1 and fetal akinesia deformation sequence syndrome

DGAT1 [ENSP00000482264]

Acyl-CoA retinol O-fatty-acyltransferase; Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders; Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.

Synonyms:  DGAT1,  101929012,  DGAT1p,  hDGAT1,  O75907 ...

Linkouts:  STRING  Pharos  UniProt