SGSH

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	MGI: 1350341 HomoloGene: 167 GeneCards: SGSH
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 • metabolic process • glycosaminoglycan catabolic process • heparan sulfate proteoglycan catabolic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6448	27029
Ensembl	ENSG00000181523	ENSMUSG00000005043
UniProt	P51688	n/a
RefSeq (mRNA)	NM_000199	NM_018822
RefSeq (protein)	NP_000190	n/a
Location (UCSC)	Chr 17: 80.21 – 80.22 Mb	Chr 11: 119.34 – 119.36 Mb
PubMed search

4MHX, 4MIV

6448

27029

ENSG00000181523

ENSMUSG00000005043

P51688

n/a

NM_000199

NM_018822

NP_000190

n/a

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

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. 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 to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.

...
Wikipedia