DGAT1
Chr 8diacylglycerol O-acyltransferase 1
Also known as: ARAT, ARGP1, DGAT, DIAR7
The protein catalyzes the terminal step in triacylglycerol synthesis and is highly expressed in small intestinal epithelial cells where it is essential for dietary fat absorption. Mutations cause autosomal recessive diarrhea 7 with protein-losing enteropathy. The gene is not highly constrained against loss-of-function variants, consistent with the recessive inheritance pattern.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 23 | 0 | 5 | 0 | 28 |
Likely Pathogenic | 18 | 1 | 2 | 0 | 21 |
VUS | 2 | 50 | 6 | 0 | 58 |
Likely Benign | 0 | 1 | 156 | 114 | 271 |
Benign | 0 | 0 | 3 | 0 | 3 |
Conflicting | — | 1 | |||
| Total | 43 | 52 | 172 | 114 | 382 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools