Acid alpha-glucosidase

Glucosidase, alpha; acid
Identifiers
Symbols GAA; LYAG
External IDs OMIM606800 MGI95609 HomoloGene37268 GeneCards: GAA Gene
EC number 3.2.1.20
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2548 14387
Ensembl ENSG00000171298 ENSMUSG00000025579
UniProt P10253 P70699
RefSeq (mRNA) NM_000152.3 NM_008064
RefSeq (protein) NP_000143.2 NP_032090
Location (UCSC) Chr 17:
78.08 – 78.09 Mb
Chr 11:
119.13 – 119.15 Mb
PubMed search [1] [2]

Lysosomal alpha-glucosidase is an enzyme that in humans is encoded by the GAA gene.[1] Errors in this gene cause glycogen storage disease type II (Pompe disease).

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 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.[1]

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Further reading