GAA (alpha glucosidase)

2014-11-01 Affiliation

Identity

HGNC

GAA

LOCATION

17q25.3

LOCUSID

2548

ALIAS

LYAG

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2548
MIM: 606800
HGNC: 4065
Ensembl: ENSG00000171298

Variants:

dbSNP: 2548
ClinVar: 2548
TCGA: ENSG00000171298
COSMIC: GAA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171298	ENST00000302262	P10253
ENSG00000171298	ENST00000390015	P10253
ENSG00000171298	ENST00000570803	I3L3L3
ENSG00000171298	ENST00000572080	I3L2V9
ENSG00000171298	ENST00000577106	I3L0S5

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Galactose metabolism	KEGG	ko00052
Starch and sucrose metabolism	KEGG	ko00500
Galactose metabolism	KEGG	hsa00052
Starch and sucrose metabolism	KEGG	hsa00500
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Glycogen breakdown (glycogenolysis)	REACTOME	R-HSA-70221
Lysosomal glycogen catabolism	REACTOME	R-HSA-5357572
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17592248	2007	Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...	50
27238910	2016	Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.	41
17213836	2007	Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.	36
15520017	2005	Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor.	34
18425781	2008	Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.	34
16917947	2006	Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.	31
15313146	2004	Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.	30
17210890	2007	Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.	30
22644586	2012	Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.	20

Citation

Dessen P

GAA (alpha glucosidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63640/gaa