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

Danio rerio
sgsh
Drosophila melanogaster
CG14291
Mus musculus
Sgsh
Rattus norvegicus
LOC688293

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