GAA Chromosome 17
Alpha glucosidase
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What This Gene Does
This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Glycoside hydrolase family 31
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000171298
Associated Conditions (32)
Glycogen storage disease
type II
Cardiovascular phenotype
GAA-related disorder
Long QT syndrome
Cardiomyopathy
Thyroid cancer
nonmedullary
1
Hepatocellular carcinoma
Familial cancer of breast
Cervical cancer
See cases
Glycogen storage disease due to acid maltase deficiency
late-onset
Inborn genetic diseases
Elevated circulating creatine kinase concentration
Melanoma
Rare genetic deafness
Colon adenocarcinoma
+12 more conditions
Key Variants
RS111832449
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Cardiovascular phenotype
Health Risk
RS116322271
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Cardiovascular phenotype
Health Risk
RS1178922366
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
RS1235035841
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Cardiovascular phenotype
Health Risk
RS1245412108
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
RS1260256483
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
RS1265892085
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
RS1292367136
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
RS1327361418
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
RS1328159128
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
RS1334888803
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Glycogen storage disease, type II
Health Risk
RS1379211438
Conflicting classifications of pathogenicity
Glycogen storage disease, type II, Glycogen storage disease
Health Risk
All Variants (726)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2039287852 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143826963 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143829478 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143848897 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143849751 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143857207 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143883845 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143888280 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143892473 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143895928 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2143931061 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Cardiovascular phenotype |
| RS2510359261 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2510364501 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2510369910 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2510378916 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2510384401 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2510404152 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2510404705 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS377544304 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS750668627 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS752002666 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS756671283 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS760731229 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Familial cancer of breast |
| RS767247397 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS776325453 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS786204621 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |