N-acetylglucosamine-6-sulfatase
N-acetylglucosamine-6-sulfatase also known as glucosamine -6-sulfatase is an enzyme that in humans is encoded by the GNS gene. This enzyme is deficient in Sanfilippo Syndrome type IIId. This enzyme catalyses the following chemical reaction:Function
N-acetylglucosamine-6-sulfatase is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate.Clinical significance
Deficiency of this enzyme results in the accumulation of undergraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID. Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.Nomenclature
The systematic name of this enzyme is "N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase". Other accepted names include:
