MOGAT1

Chr 2

monoacylglycerol O-acyltransferase 1

Also known as: DGAT2L, DGAT2L1, MGAT1

NCBI Gene: 116255 ENSG00000124003 UniProt: Q96PD6 OMIM: 610268

The encoded acyl-CoA:monoacylglycerol acyltransferase catalyzes the formation of diacylglycerol from monoacylglycerol and fatty acyl-CoA, serving as a key enzyme in triacylglycerol and phospholipid synthesis. Mutations cause autosomal recessive congenital diarrhea and malabsorption, primarily affecting the gastrointestinal system with onset in infancy. The gene shows minimal constraint against loss-of-function variants (very low pLI), but has moderate intolerance to loss-of-function variation overall (LOEUF 1.548).

OMIM ResearchSummary from RefSeq, UniProt

Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.55

LOEUF

Mechanism· predicted