NP_002067.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
59,989 Da
NCBI Official Full Name
N-acetylglucosamine-6-sulfatase
NCBI Official Synonym Full Names
glucosamine (N-acetyl)-6-sulfatase
NCBI Official Synonym Symbols
NCBI Protein Information
N-acetylglucosamine-6-sulfatase
UniProt Protein Name
N-acetylglucosamine-6-sulfatase
UniProt Synonym Protein Names
Glucosamine-6-sulfatase; G6S
UniProt Synonym Gene Names
UniProt Entry Name
GNS_HUMAN
NCBI Summary for GNS
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
UniProt Comments for GNS
GNS: Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D); also known as Sanfilippo D syndrome. MPS3D is a 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. Belongs to the sulfatase family.
Protein type: Hydrolase; Glycan Metabolism - glycosaminoglycan degradation; EC 3.1.6.14
Chromosomal Location of Human Ortholog: 12q14
Cellular Component: lysosomal lumen
Molecular Function: protein binding; N-acetylglucosamine-6-sulfatase activity; sulfuric ester hydrolase activity; metal ion binding
Biological Process: keratan sulfate metabolic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; keratan sulfate catabolic process
Disease: Mucopolysaccharidosis, Type Iiid
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Products associated with GNS sirna
Pathways associated with GNS sirna
Diseases associated with GNS sirna
Organs/Tissues associated with GNS sirna
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