ALG8
Chr 11ARADALG8 alpha-1,3-glucosyltransferase
Also known as: CDG1H, PCLD3
The encoded protein catalyzes the addition of the second glucose residue to lipid-linked oligosaccharide precursors during N-linked glycosylation of proteins in the endoplasmic reticulum. Mutations cause congenital disorder of glycosylation type Ih and polycystic liver disease 3 with or without kidney cysts, following both autosomal recessive and autosomal dominant inheritance patterns. The pathogenic mechanism involves dominant-negative effects.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
ALG8 · 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