Supriya Ghosh (Editor)

N acetylglucosamine 6 sulfatase

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Species
  
Human

Entrez
  
2799

Human
  
Mouse

Ensembl
  
ENSG00000135677

Aliases
  
GNS, G6S, glucosamine (N-acetyl)-6-sulfatase

External IDs
  
MGI: 1922862 HomoloGene: 1568 GeneCards: GNS

N-acetylglucosamine-6-sulfatase also known as glucosamine (N-acetyl)-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:

Contents

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

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 (Sanfilippo D syndrome). 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:

  • 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

    N-acetylglucosamine-6-sulfatase Wikipedia
    (Text) CC BY-SA