DGAT1

Chr 8AR

diacylglycerol O-acyltransferase 1

Also known as: ARAT, ARGP1, DGAT, DIAR7

NCBI Gene: 8694ENSG00000185000UniProt: O75907OMIM: 604900

This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Diarrhea 7, protein-losing enteropathy typeMIM #615863
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
183
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
LOEUF
LOF
Mechanism· G2P
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GeneReview available — DGAT1
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.58
OE 0.89 (0.66–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.04Z-score
OE missense 0.82 (0.74–0.92)
229 obs / 277.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.89 (0.66–1.22)
0≤0.351.4
Missense OE?0.82 (0.74–0.92)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 28 / 31.5Missense obs/exp: 229 / 277.9Syn Z: -1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DGAT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients