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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GAA (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2548
Official gene symbolGAA
Full nameglucosidase, alpha; acid
Aliases,LYAG,
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 17   Locus: 17q25.2-q25.3
Gene position78075355 - 78093679  Map Viewer
Gene orientationplus
Gene size18325 bp
Gene sequence
OMIM ID606800