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Reliable, easy-to-read patient information on common medical conditions β€” written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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N-acetylglucosamine-6-sulfatase

Introduction

N-acetylglucosamine-6-sulfatase also known as glucosamine (N-acetyl)-6-sulfatase is an enzyme that in humans is encoded by the GNS gene.[1] This enzyme is deficient in Sanfilippo Syndrome type IIId.[2][3][4] This enzyme catalyses the following chemical reaction:

Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate
Function

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.[1]

Clinical significance

Clinical significance

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.[1]

Nomenclature

Nomenclature

The systematic name of this enzyme is “N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase”. Other accepted names include:

  • N-acetylglucosamine-6-sulfatase,
  • glucosamine (N-acetyl)-6-sulfatase,
  • 2-acetamido-2-deoxy-D-glucose 6-sulfate sulfatase,
  • N-acetylglucosamine 6-sulfate sulfatase,
  • O,N-disulfate O-sulfohydrolase,
  • acetylglucosamine 6-sulfatase,
  • chondroitinsulfatase, and
  • glucosamine-6-sulfatase.
References

References

  1. ↑ 1.0 1.1 1.2 “Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase”.
  2. ↑ Basner R, Kresse H, von Figura K (February 1979). “N-Acetylglucosamine-6-sulfate sulfatase from human urine”. J. Biol. Chem. 254 (4): 1151–8. PMIDΒ 762121.
  3. ↑ Kresse H, Fuchs W, GlΓΆssl J, Holtfrerich D, Gilberg W (December 1981). “N-acetylglucosamine-6-sulfate by human Ξ²-N-acetylhexosaminidase A”. J. Biol. Chem. 256 (24): 12926–32. PMIDΒ 6458607.
  4. ↑ Weissmann B, Chao H, Chow P (November 1980). “A glucosamine O,N-disulfate O-sulfohydrolase with a probable role in mammalian catabolism of heparan sulfate”. Biochem. Biophys. Res. Commun. 97 (2): 827–33. doi:10.1016/0006-291x(80)90338-1. PMIDΒ 6451222.
External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.