Presku: | AAP45217 |
Size: | 100 ug |
Weight: | 58kDa |
Gene: | 2799 |
Format: | Lyophilized powder |
Target: | GNS is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparin sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder ucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.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. |
Alternative names: | G6S; MGC21274 |