Aliases for SGSH Gene
External Ids for SGSH Gene
Previous GeneCards Identifiers for 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, Jul 2008]
GeneCards Summary for SGSH Gene
SGSH (N-Sulfoglucosamine Sulfohydrolase) is a Protein Coding gene. Diseases associated with SGSH include Mucopolysaccharidisis Type Iiia and Mucopolysaccharidosis Iii. Among its related pathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. GO annotations related to this gene include sulfuric ester hydrolase activity and N-sulfoglucosamine sulfohydrolase activity.
UniProtKB/Swiss-Prot for SGSH Gene
Catalyzes a step in lysosomal heparan sulfate degradation.