CSGALNACT1
Chr 8ARchondroitin sulfate N-acetylgalactosaminyltransferase 1
Also known as: CSGalNAcT-1, ChGn, ChGn-1, SDJLABA, beta4GalNAcT
This enzyme transfers N-acetylgalactosamine to glucuronic acid residues during chondroitin sulfate biosynthesis, which is essential for cartilage formation and endochondral ossification. Autosomal recessive mutations cause skeletal dysplasia with joint laxity and advanced bone age, primarily affecting the musculoskeletal system. The gene shows low constraint against loss-of-function variants (LOEUF 1.338), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Primary Disease Associations & Inheritance
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
497 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 | 8 | 0 | 82 | 0 | 90 |
Likely Pathogenic | 1 | 2 | 6 | 0 | 9 |
VUS | 1 | 177 | 34 | 1 | 213 |
Likely Benign | 1 | 10 | 43 | 80 | 134 |
Benign | 0 | 5 | 19 | 7 | 31 |
Conflicting | — | 5 | |||
| Total | 11 | 194 | 184 | 88 | 482 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CSGALNACT1 · 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