ALG1
Chr 16ARALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Also known as: CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1
The encoded enzyme catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides in the endoplasmic reticulum membrane. Biallelic mutations cause congenital disorder of glycosylation type Ik, inherited in an autosomal recessive pattern. The pathogenesis involves disrupted N-linked protein glycosylation due to defective oligosaccharide precursor synthesis.
Definitive — sufficient evidence for diagnostic panels
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
ALG1 · 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