GNS Back

glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID)

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NCBI Description of GNS
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.

Community Annotation of GNS Add / Edit GNS: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

GNS is highly significantly mutated in
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GNS is significantly mutated in
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GNS is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for GNS