DPM3
Chr 1ARdolichyl-phosphate mannosyltransferase subunit 3, regulatory
Also known as: CDG1O, MDDGB15, MDDGC15
The protein is a stabilizer subunit of the dolichol-phosphate mannose synthase complex that tethers the catalytic subunit to the endoplasmic reticulum, essential for synthesizing mannose donors required for proper glycosylation of proteins including dystroglycan. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy, presenting as either congenital muscular dystrophy with intellectual disability or limb-girdle muscular dystrophy. This affects both muscle and brain development due to defective glycosylation of dystroglycan and other glycoproteins.
Moderate evidence — consider for supplementary testing
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
DPM3 · 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