CHST6 Gene Summary [Human]
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | CHST6 |
| Official Name | carbohydrate sulfotransferase 6 [Source:HGNC Symbol;Acc:HGNC:6938] |
| Ensembl ID | ENSG00000183196 |
| Bio databases IDs | |
| Aliases | carbohydrate sulfotransferase 6 |
| Synonyms | carbohydrate sulfotransferase 6, carbohydrate sulphotransferase 6, C-GlcNAc6ST, GlcNAc6ST-5, gn6st-5, GST4-beta, GST4-β, hCGn6ST, MCDC1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHST6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-acetylglucosamine-6-O-sulfotransferase
- enzyme
- Sulfotransferase family
- keratan sulfotransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- flu
- Dupuytren contracture
- macular corneal dystrophy type II
- macular corneal dystrophy type I
- TCF3-PBX1 fusion positive acute lymphoblastic leukemia
- diverticular disease
- febrile seizure
regulates
- N-acetylglucosamine
- keratan sulfate
- sulfur-containing compound
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi Apparatus
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHST6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- sulfur compound metabolic process
- N-acetylglucosamine metabolic process
- keratan sulfate biosynthetic process
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- Golgi membrane
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- keratan sulfotransferase activity
- N-acetylglucosamine 6-O-sulfotransferase activity