Acid alpha-glucosidase

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Glucosidase, alpha; acid
Identifiers
Symbols GAA ; LYAG
External IDs OMIM606800 MGI95609 HomoloGene37268 ChEMBL: 2608 GeneCards: GAA Gene
EC number 3.2.1.20
RNA expression pattern
PBB GE GAA 202812 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2548 14387
Ensembl ENSG00000171298 ENSMUSG00000025579
UniProt P10253 P70699
RefSeq (mRNA) NM_000152 NM_001159324
RefSeq (protein) NP_000143 NP_001152796
Location (UCSC) Chr 17:
78.08 – 78.09 Mb
Chr 11:
119.27 – 119.29 Mb
PubMed search [1] [2]

Lysosomal alpha-glucosidase (also called α-1,4-glucosidase[1]) is an enzyme that in humans is encoded by the GAA gene.[2] 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.[2]

References[edit]

  1. ^ Donald J. Voet; Judith G. Voet; Charlotte W. Pratt (2008). "Additional Pathways in Carbohydrate Metabolism". Principles of Biochemistry, Third edition. Wiley. p. 538. ISBN 978-0470-23396-2. 
  2. ^ a b "Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)". 

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