ALG5
Chr 13ADALG5 dolichyl-phosphate beta-glucosyltransferase
Also known as: PKD7, bA421P11.2
The ALG5 protein is a dolichyl-phosphate beta-glucosyltransferase that produces the glucose donor substrate essential for the final steps of N-linked protein glycosylation in the endoplasmic reticulum. Mutations cause polycystic kidney disease 7, which follows autosomal dominant inheritance. The gene shows significant constraint against loss-of-function variants (LOEUF 0.453), indicating that complete loss of ALG5 function is likely incompatible with normal development.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
131 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 3 | 50 | 0 | 55 |
Likely Pathogenic | 3 | 0 | 0 | 0 | 3 |
VUS | 1 | 43 | 4 | 0 | 48 |
Likely Benign | 0 | 6 | 0 | 2 | 8 |
Benign | 0 | 0 | 1 | 2 | 3 |
| Total | 6 | 52 | 55 | 4 | 117 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ALG5 · 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