CHST7
Chr Xcarbohydrate sulfotransferase 7
Also known as: C6ST-2, GST-5
The encoded sulfotransferase catalyzes the transfer of sulfate groups to position 6 of N-acetylglucosamine residues in glycoproteins and to N-acetylgalactosamine residues in chondroitin sulfate. Biallelic mutations cause Ehlers-Danlos syndrome musculocontractural type 2, an autosomal recessive connective tissue disorder characterized by joint contractures, skin hyperextensibility, and craniofacial dysmorphism with onset in infancy. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
115 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 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 36 | 10 | 0 | 46 |
Likely Benign | 0 | 0 | 0 | 3 | 3 |
Benign | 0 | 0 | 0 | 2 | 2 |
Conflicting | — | 1 | |||
| Total | 0 | 36 | 66 | 5 | 108 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CHST7 · 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