SGSH N-sulfoglucosamine sulfohydrolase
Gene ID: 6448, updated on 11-Apr-2024Gene type: protein coding
Also known as: HSS; SFMD; MPS3A
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- Go to complete Gene record for SGSH
- Go to Variation Viewer for SGSH variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mucopolysaccharidosis, MPS-III-A | See labs |
Genomic context
- Location:
- 17q25.3
- Sequence:
- Chromosome: 17; NC_000017.11 (80200673..80220333, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SGSH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SGSH database
- Variation ViewerRelated Variants
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