GNS Antibody – Rabbit Polyclonal

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]

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; EC 3.1.6.14; Glycan Metabolism - glycosaminoglycan degradation

Chromosomal Location of Human Ortholog: 12q14

Cellular Component: lysosomal lumen

Molecular Function: N-acetylglucosamine-6-sulfatase activity; protein binding; sulfuric ester hydrolase activity

Biological Process: glycosaminoglycan catabolic process; keratan sulfate catabolic process

Disease: Mucopolysaccharidosis, Type Iiid