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glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)

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NCBI Description of GAA
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.

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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

GAA is highly significantly mutated in
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GAA is significantly mutated in
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GAA 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 GAA