GAA

GENE INFORMATION

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Gene name

GAA

Synonyms

Description

Glucosidase, alpha; acid (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

17

Cytoband

q25.3

Chromosome location (bp)

80101556 - 80119879

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171298 (version 78.38)

Entrez gene

2548

UniProt

P10253 (UniProt - Evidence at protein level)

neXtProt

NX_P10253

Antibodypedia

GAA antibodies
 

PROTEIN VIEW

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GAA-001
 
GAA-002
 
GAA-004
 
GAA-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GAA-001 ENSP00000374665
ENST00000390015
P10253
Show all »
Show » Show » 952 105.3 No 0
GAA-002 ENSP00000305692
ENST00000302262
P10253
Show all »
Show » Show » 952 105.3 No 0
GAA-004 ENSP00000458306
ENST00000577106
I3L0S5
Show all »
Show » Show » 208 23 No 0
GAA-005 ENSP00000460543
ENST00000570803
I3L3L3
Show all »
Show » Show » 285 31.7 No 0