279975612ENSG00000135677ENSMUSG00000034707P15586Q8BFR4NM_002076NM_029364NM_001364695NP_002067NP_002067.1NP_083640NP_001351624N-acetylglucosamine-6-sulfatase (EC 3.1.6.14, glucosamine (N-acetyl)-6-sulfatase, systematic name N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase) is an enzyme that in humans is encoded by the GNS gene.
[6][7][8] It catalyses the hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate N-acetylglucosamine-6-sulfatase is a lysosomal enzyme found in all cells.
[5] Deficiency of this enzyme results in the accumulation of undergraded 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.
Other accepted names include: This article incorporates text from the United States National Library of Medicine, which is in the public domain.