NDST3
Chr 4N-deacetylase and N-sulfotransferase 3
Also known as: HSST3
This enzyme catalyzes N-deacetylation and N-sulfation of glucosamine residues in heparan sulfate biosynthesis within the Golgi apparatus, essential for creating functional oligosaccharide sequences that mediate specific ligand binding activities. Mutations cause autosomal recessive intellectual disability with behavioral abnormalities and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants, indicating its critical role in normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
104 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 | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 73 | 3 | 0 | 76 |
Likely Benign | 0 | 1 | 3 | 0 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 74 | 25 | 0 | 99 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NDST3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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