Disease-gene associations mined from literature

Literature associating DGAT2 and autosomal dominant non-syndromic intellectual disability 38

DGAT2 [ENSP00000228027]

Acyl-CoA retinol O-fatty-acyltransferase; 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); Diacylglycerol O-acyltransferase 2 family

Synonyms:  DGAT2,  DGAT2p,  hDGAT2,  DGAT2-001,  DGAT2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM