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Article

Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea.

Journal of lipid research - 1 Jun 2017

Gluchowski Nina L, Chitraju Chandramohan, Picoraro Joseph A, Mejhert Niklas, Pinto Shirly, Xin Winnie, Kamin Daniel S, Winter Harland S, Chung Wendy K, Walther Tobias C, Farese Robert V

Abstract excerpt

Acyl-CoA:diacylglycerol acyltransferase (DGAT)1 and DGAT2 catalyze triglyceride (TG) biosynthesis in humans. Biallelic loss-of-function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharmacologic inhibition of DGAT1 led to dose-related diarrhea in human clinical trials. Here we identify a previously unknown DGAT1 mutation in identical twins of South...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28373485
DOI: 10.1194/jlr.P075119
PMCID: PMC5454518

Genes

DGAT1
DGAT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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