MAN2C1
Chr 15ARmannosidase alpha class 2C member 1
Also known as: CDDG2, MAN6A8, MANA, MANA1
This gene encodes an alpha-mannosidase that cleaves mannose residues on cytoplasmic free oligosaccharides generated during N-glycoprotein degradation. Biallelic mutations cause congenital disorder of deglycosylation 2, an autosomal recessive condition affecting glycoprotein metabolism. The gene shows low constraint to loss-of-function variation (pLI ~0, LOEUF 1.08), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
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
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MAN2C1 · 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