CHST6: Carbohydrate Sulfotransferase 6
Gene encoding corneal N-acetylglucosamine-6-sulfotransferase, critical for keratan sulfate biosynthesis and implicated in macular corneal dystrophy
Gene Information Card
| Symbol | CHST6 |
|---|---|
| Full Name | Carbohydrate Sulfotransferase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 4166 ncbi.nlm.nih.gov/gene/4166 |
| Ensembl ID | ENSG00000103196 |
| UniProt ID | Q9GZX3 |
| OMIM ID | 605294 |
| HGNC ID | 1966 |
| Aliases | C-GlcNAc6ST, GST4-beta, GlcNAc6ST-5, hCGn6ST |
Description
CHST6 encodes a member of the carbohydrate sulfotransferase family. The encoded protein catalyzes the transfer of sulfate to position 6 of N-acetylglucosamine on keratan sulfate, a glycosaminoglycan essential for corneal transparency. Mutations in this gene cause macular corneal dystrophy (MCD), an autosomal recessive disorder characterized by progressive corneal opacification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Macular corneal dystrophy (MCD) | Loss-of-function mutations in CHST6 impair sulfation of keratan sulfate, leading to accumulation of unsulfated keratan sulfate in corneal stroma and progressive opacification. | ClinVar, OMIM |
| Corneal dystrophy, macular, type I | Homozygous or compound heterozygous mutations result in complete absence of sulfated keratan sulfate in cornea and serum. | OMIM, NCBI |
| Corneal dystrophy, macular, type II | Some mutations allow residual sulfotransferase activity, leading to partial sulfation and milder phenotype. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | High | Tissue-specific high expression |
| Brain | Low | Detectable in certain regions |
| Kidney | Low | Minimal expression |
| Liver | Not detected | Absent |
| Heart | Not detected | Absent |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Corneal keratocytes | High | Primary cell type expressing CHST6 |
| Corneal epithelial cells | Moderate | Lower expression than keratocytes |
| HEK293 | Low | Used in recombinant studies |
| HeLa | Not detected | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.484C>T (p.Arg162Trp) | Missense | Common in MCD type I | Loss of sulfotransferase activity |
| c.599G>A (p.Arg200His) | Missense | Reported in MCD | Reduced enzyme activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein |
| c.103delC | Frameshift | Rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Majority of CHST6 mutations (missense, nonsense, frameshift, splice-site) lead to loss of sulfotransferase activity, causing macular corneal dystrophy.
Gain of Function (GOF)
No gain-of-function mutations reported for CHST6.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517) | • N-acetylglucosamine metabolic process (GO:0006044) |
| • Golgi apparatus (GO:0005794) | • peptide sulfation (GO:0018149) |
| • glycosaminoglycan metabolic process (GO:0030203) |
Pathways
• Keratan sulfate biosynthesis (Reactome: R-HSA-2022857)
• Sulfur metabolism (KEGG: map00920)
• Glycosaminoglycan biosynthesis – keratan sulfate (KEGG: map00533)
Protein Summary
CHST6 is a Golgi-resident type II transmembrane protein of 395 amino acids. It catalyzes the transfer of sulfate from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the C6 position of N-acetylglucosamine residues in keratan sulfate. This sulfation is critical for the structural integrity and transparency of the cornea. Loss of function leads to macular corneal dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHST6 Knockout HEK293 Cell Line | EDJ-KQ5185 | Human | 4166 | Details Get a Quote |
| CHST6 Knockout HCT 116 Cell Line | EDJ-KQ28173 | Human | 4166 | Details Get a Quote |
| CHST6 Knockout HeLa Cell Line | EDJ-KQ53853 | Human | 4166 | Details Get a Quote |
| CHST6 Knockout A-549 Cell Line | EDJ-KQ62340 | Human | 4166 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
