ALG11
Chr 13ARALG11 alpha-1,2-mannosyltransferase
Also known as: CDG1P, GT8
The protein functions as a GDP-mannose:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase that catalyzes the transfer of the fourth and fifth mannose residues to dolichol-linked oligosaccharides on the cytosolic side of the endoplasmic reticulum during N-linked glycosylation. Mutations cause congenital disorder of glycosylation type Ip (CDG-Ip) through autosomal recessive inheritance. The pathogenic mechanism involves disruption of the early steps of N-linked protein glycosylation due to defective mannosyltransferase activity.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALG11 · 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