CHST14
Chr 15ARcarbohydrate sulfotransferase 14
Also known as: ATCS, D4ST1, EDSMC1, HNK1ST
This gene encodes a sulfotransferase that catalyzes the transfer of sulfate to N-acetylgalactosamine residues in dermatan sulfate, playing a crucial role in dermatan sulfate biosynthesis and cerebellar neural network formation during postnatal brain development. Biallelic mutations cause Ehlers-Danlos syndrome, musculocontractural type 1, an autosomal recessive connective tissue disorder characterized by joint contractures, skin hyperextensibility, and skeletal abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.64), suggesting some tolerance to haploinsufficiency.
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
CHST14 · 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