GNPTG Back

N-acetylglucosamine-1-phosphate transferase, gamma subunit

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NCBI Description of GNPTG
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.

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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

GNPTG is highly significantly mutated in
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GNPTG is significantly mutated in
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GNPTG 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 GNPTG