GALNS Gene Summary [Human]
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GALNS |
| Official Name | galactosamine (N-acetyl)-6-sulfatase [Source:HGNC Symbol;Acc:HGNC:4122] |
| Ensembl ID | ENSG00000141012 |
| Bio databases IDs | |
| Aliases | galactosamine (N-acetyl)-6-sulfatase, Morquio syndrome, mucopolysaccharidosis type IVA, N-acetylgalactosamine-6-sulfatase, chondroitinase, chondroitinsulfatase, galactose-6-sulfate sulfatase |
| Synonyms | CHONDROITINASE ABC, galactosamine (N-acetyl)-6-sulfatase, galactosamine (N-acetyl)-6-sulphatase, GalN6S, GALNAC6S, GAS, LOC105371408, mFLJ00319, MPS4A |
| Species | Human, Homo sapiens |
| Orthologies |
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 GALNS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alkaline phosphatases and sulfatases
- Domain of unknown function (DUF4976)
- sulfuric ester hydrolase
- N-acetylgalactosamine-6-sulfatase
- Sulfatase
- enzyme
- N-acetylgalactosamine-4-sulfatase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- mucopolysaccharidosis, MPS-IV-A
- mucopolysaccharidosis type IV
- hereditary disorder
- sunburn
- skeletal dysplasia
- mucopolysaccharidosis type I
- atypical femur fracture
role in cell
- quantity
- proliferation
- density
- extension
- binding in
- expression in
- phosphorylation in
- differentiation
- function
- number
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
- azurophil granule lumen
- Extracellular Space
- lysosome
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GALNS gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- lysosomal lumen
- extracellular region
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- N-acetylgalactosamine-4-sulfatase activity
- metal ion binding
- sulfuric ester hydrolase activity
- N-acetylgalactosamine-6-sulfatase activity
- arylsulfatase activity