DISEASES

Disease-gene associations mined from literature

DGAT2 disease associations

DGAT2 [ENSP00000228027]

Diacylglycerol O-acyltransferase 2; Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides . Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT).

Synonyms:  DGAT2,  DGAT2p,  hDGAT2,  Q96PD7,  S4R383 ...

Linkouts:  STRING  Pharos  UniProt  OMIM