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Protein Page:
SGSH (human)

Overview
SGSH Defects in SGSH are the cause of mucopolysaccharidosis type 3A (MPS3A); also known as Sanfilippo syndrome A. MPS3A is a severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 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. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. Belongs to the sulfatase family. Note: This description may include information from UniProtKB.
Protein type: EC 3.10.1.1; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: lysosomal lumen; lysosome
Molecular Function: N-sulfoglucosamine sulfohydrolase activity
Biological Process: glycosaminoglycan catabolic process; heparan sulfate proteoglycan catabolic process
Disease: Mucopolysaccharidosis, Type Iiia
Reference #:  P51688 (UniProtKB)
Alt. Names/Synonyms: heparan sulfate sulfatase; HSS; MPS3A; N-sulfoglucosamine sulfohydrolase; N-sulphoglucosamine sulphohydrolase; SFMD; SGSH; SPHM; Sulfoglucosamine sulfamidase; Sulphamidase
Gene Symbols: SGSH
Molecular weight: 56,695 Da
Basal Isoelectric point: 6.46  Predict pI for various phosphorylation states
Select Structure to View Below

SGSH

Protein Structure Not Found.
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