SGSH Antibody / N-sulphoglucosamine sulphohydrolase / HSS

N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene. 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.