SGSH Gene Summary [Human]
This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
Details
| Type | Processed Transcript |
| Official Symbol | SGSH |
| Official Name | N-sulfoglucosamine sulfohydrolase [Source:HGNC Symbol;Acc:HGNC:10818] |
| Ensembl ID | ENSG00000181523 |
| Bio databases IDs | |
| Aliases | N-sulfoglucosamine sulfohydrolase, sulfamidase, mucopolysaccharidosis type IIIA |
| Synonyms | 4632406A19Rik, HSS, MPS3A, N-sulfoglucosamine sulfohydrolase, N-sulfoglucosamine sulfohydrolase (sulfamidase), N-sulphoglucosamine sulphohydrolase, N-sulphoglucosamine sulphohydrolase (sulphamidase), SFMD, sulphamidase |
| 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 SGSH 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
- sulfuric ester hydrolase
- Sulfatase
- N-sulfoglucosamine sulfohydrolase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mucopolysaccharidosis type IIIA
- hereditary disorder
- diabetic nephropathy
- Sanfilippo disease
- attenuated Sanfilippo syndrome type A
- mental retardation
regulates
- glycosaminoglycan
- heparan sulfate proteoglycan
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
- lysosome
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SGSH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- determination of adult lifespan
- heparan sulfate proteoglycan catabolic process
- glycosaminoglycan catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- lysosomal lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- sulfuric ester hydrolase activity
- metal ion binding
- N-sulfoglucosamine sulfohydrolase activity