LongevityMap Gene
Gene details
- HGNC symbol
- SGSH
- Aliases
- HSS; SFMD; MPS3A
- Common name
- N-sulfoglucosamine sulfohydrolase
- Description
- This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, 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, Jul 2008]
- Cytogenetic Location
- 17q25.3
- UCSC Genome Browser
- View 17q25.3 on the UCSC genome browser
- OMIM
- 605270
- Ensembl
- ENSG00000181523
- UniProt/Swiss-Prot
- SPHM_HUMAN
- Entrez Gene
- 6448
- UniGene
- 31074
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as SGSH
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs9894254
- Reference