Protein Name N-sulfoglucosamine sulfohydrolase
Organism Homo sapiens
Gene ID 6448
Gene Symbol

SGSH

UniProt P51688 (SPHM_HUMAN)
Relationships Total Number of functionally related compound(s) : 32
Total Number of Articles : 33
Description

N-sulfoglucosamine sulfohydrolase

Gene 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]

synonyms
  • N-sulphoglucosamine sulphohydrolase
  • heparan sulfate sulfatase
  • mucopolysaccharidosis type IIIA
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Properties