Symbol: Name: ID: |
SGSH N-sulfoglucosamine sulfohydrolase GFS:732 |
Gene name: | SGSH |
Chromosome: | 17q25.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | HSS, MPS3A, SFMD |
Name Aliases: | sulfamidase |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1350341 | Rat Genome Database ID: | |
HGNC ID: | HGNC:10818 | RefSeq IDs: | NM_000199 |
Entrez Gene ID: | 6448 | Ensembl Gene ID: | ENSG00000181523 |
VEGA IDs: | UniProt ID: | P51688 | |
UCSC ID: | uc002jxz.3 | OMIM ID: | 605270 |
Pubmed: | PMID7493035 | ||
CCDS IDs: | CCDSCCDS11770.1 |
N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for SGSH gene
Catalog | Product Name | Application | Company |
GFS:E00732 | N-sulfoglucosamine sulfohydrolase; ELISA kit | ELISA | n/a |
GFS:A00732 | N-sulfoglucosamine sulfohydrolase; Anti | ANTIBODIES | n/a |
GFS:P00732 | N-sulfoglucosamine sulfohydrolase; Protien | Protien | n/a |