GAA Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GAA |
| Official Name | alpha glucosidase [Source:HGNC Symbol;Acc:HGNC:4065] |
| Ensembl ID | ENSG00000171298 |
| Bio databases IDs | |
| Aliases | alpha glucosidase, Pompe disease, glycogen storage disease type II |
| Synonyms | acid alpha-glucosidase, Acid glucan-1,4-alpha-glucosidase, Acid glucan-1,4-α-glucosidase, acid α-glucosidase, alpha-GLUCOSIDASE, E430018M07Rik, glucosidase, alpha acid, glucosidase, alpha, acid, glucosidase, α acid, glucosidase, α, acid, LYAG, Lysosomal alpha-glucosidase, Lysosomal α-glucosidase, α-GLUCOSIDASE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GAA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl hydrolases family 31
- Alpha amylase catalytic domain family
- glucan 1,4-alpha-glucosidase
- alpha-glucosidase
- glucosidase
- N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
- enzyme
- carbohydrate binding
- Trefoil
- Galactose mutarotase-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoglycemia
- obesity
- polycystic ovary syndrome
- glycogen storage disease type II
- diabetes mellitus
- gait disturbance
- Niemann-Pick disease type C
- non-insulin-dependent diabetes mellitus
- impaired glucose tolerance
- hereditary disorder
role in cell
- organization
- abnormal morphology
- budding
- homeostasis
- macroautophagy in
- endoplasmic reticulum stress response in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- multivesicular domain
- intracellular membrane-bounded organelle
- cellular membrane
- vacuole
- Plasma Membrane
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- secretory granule membrane
- tertiary granule membrane
- lysosome membrane
- lysosomal compartment
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GAA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- muscle cell homeostasis
- diaphragm contraction
- glycogen catabolic process
- cardiac muscle contraction
- glucose metabolic process
- sucrose metabolic process
- tissue development
- regulation of the force of heart contraction
- maltose metabolic process
- vacuolar sequestering
- neuromuscular process controlling posture
- heart morphogenesis
- locomotory behavior
- aorta development
- neuromuscular process controlling balance
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- membrane
- lysosomal lumen
- azurophil granule membrane
- lysosomal membrane
- tertiary granule membrane
- plasma membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- alpha-glucosidase activity
- maltose alpha-glucosidase activity
- carbohydrate binding