PMM2
Chr 16phosphomannomutase 2
Also known as: CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
This protein catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is essential for GDP-mannose synthesis and subsequent dolichol-P-oligosaccharide production required for glycoprotein biosynthesis. Autosomal recessive mutations cause congenital disorder of glycosylation type Ia through defects in glycoprotein biosynthesis. The pathogenic mechanism involves dominant-negative effects that disrupt normal protein glycosylation pathways.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
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
Tolerant to missense variation
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
PMM2 · 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