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)
SGSH (NP_000190.1, 1 a.a. ~ 502 a.a) full-length human protein.
The gene SGSH (N-sulfoglucosamine sulfohydrolase) encodes an enzyme that catalyzes the hydrolysis of N-linked sulfate groups from the GAGs (glycosaminoglycans) heparan sulfate and heparin. Deficiency of this enzyme due to mutations causes lysosomal storage of glycoaminoglycans. This leads to a disease called the mucopolysaccharidosis type IIIA or Sanfilippo A syndrome, which is a childhood-onset neurodegenerative disease characterized by facial, visceral and skeletal abnormalities.
Solution in phosphate buffered saline, pH 7.4
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