GAA

GENERAL INFORMATION

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Gene name

GAA

Gene description

Glucosidase, alpha; acid

Protein class

Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression with a granular pattern in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA026970 , HPA029126
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Endometrium



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000302262
 
ENST00000390015
 
ENST00000570803
 
ENST00000577106
 
 
 
 


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