SGSH, Official Symbol SGSHprovided by HGNC Official Full Name N-sulfoglucosamine sulfohydrolaseprovided by HGNC Primary source HGNC:HGNC:10818 See related Ensembl:ENSG00000181523 MIM:605270; AllianceGenome:HGNC:10818 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSS; SFMD; MPS3A 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] Expression Ubiquitous expression in spleen (RPKM 9.6), adrenal (RPKM 9.4) and 25 other tissues See more Orthologs mouse all