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GNS
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For Research Use Only. Not For Clinical Use.
Background
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Kupffer cells)
Immune cell specificity
Immune cell enhanced (non-classical monocyte)
Cell line specificity
Low cell line specificity
Molecular function
Hydrolase
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