DPAGT1
Chr 11ARdolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Also known as: ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT
The encoded enzyme catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis as an integral endoplasmic reticulum membrane protein. Autosomal recessive mutations cause congenital disorder of glycosylation type Ij and congenital myasthenic syndrome 13 with tubular aggregates. The pathogenic mechanism appears to be dominant-negative, where mutant proteins interfere with normal glycosylation processes.
Definitive — sufficient evidence for diagnostic panels
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DPAGT1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools