SGSH

N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.^[5][6]

SGSH
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 4MHX, 4MIV
Identifiers
Aliases	SGSH, HSS, MPS3A, SFMD, N-sulfoglucosamine sulfohydrolase
External IDs	OMIM: 605270; MGI: 1350341; HomoloGene: 167; GeneCards: SGSH; OMA:SGSH - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 80,206,716 bp[1] End 80,220,923 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 E2|11 83.36 cM Start 119,234,251 bp[2] End 119,246,362 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left adrenal gland left adrenal cortex right adrenal cortex granulocyte spleen stromal cell of endometrium right uterine tube right lobe of thyroid gland left lobe of thyroid gland gastric mucosa Top expressed in stroma of bone marrow Paneth cell granulocyte iris tail of embryo renal corpuscle spleen epithelium of lens vestibular membrane of cochlear duct calvaria More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sulfuric ester hydrolase activity hydrolase activity metal ion binding catalytic activity N-sulfoglucosamine sulfohydrolase activity Cellular component lysosomal lumen extracellular exosome lysosome Biological process metabolism glycosaminoglycan catabolic process heparan sulfate proteoglycan catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6448 27029 Ensembl ENSG00000181523 ENSMUSG00000005043 UniProt P51688 n/a RefSeq (mRNA) NM_000199 NM_001352921 NM_001352922 NM_018822 RefSeq (protein) NP_000190 NP_001339850 NP_001339851 n/a Location (UCSC) Chr 17: 80.21 – 80.22 Mb Chr 11: 119.23 – 119.25 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.^[7] MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported^[8] to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.^[6]