GYS2 Back

glycogen synthase 2 (liver)

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NCBI Description of GYS2
The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content.

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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

GYS2 is highly significantly mutated in
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GYS2 is significantly mutated in
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GYS2 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 GYS2