GLA Gene Summary [Human]
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | GLA |
| Official Name | galactosidase alpha [Source:HGNC Symbol;Acc:HGNC:4296] |
| Ensembl ID | ENSG00000102393 |
| Bio databases IDs | |
| Aliases | galactosidase alpha |
| Synonyms | Ags, alpha D-GALACTOSIDASE A, Alpha Gal A, alpha GALACTOSIDASE, alpha-galactosidase A, GALA, galactosidase alpha, galactosidase, alpha, galactosidase α, galactosidase, α, α D-GALACTOSIDASE A, α Gal, α Gal A, α GALACTOSIDASE, α-galactosidase A |
| 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 GLA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha amylase catalytic domain family
- protein homodimerization
- Alpha galactosidase C-terminal beta sandwich domain
- enzyme
- protein binding
- Alpha galactosidase A C-terminal beta sandwich domain
- receptor binding
- hydrolase
- alpha-galactosidase
- galactoside binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Fabry disease
- cardiomyopathy
- cardiac variant Fabry disease
- Turner syndrome
- chronic periodontal disease
- aortic valve calcification
- dilated cardiomyopathy
- familial hypertrophic cardiomyopathy
- hypertrophic cardiomyopathy
- early-onset high myopia
role in cell
- growth
- cellular infiltration by
- activation
- aggregation
- number
- morphology
- abnormal morphology
- binding
- accumulation 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
- azurophil granule lumen
- Extracellular Space
- cellular membrane
- lysosome
- Golgi Apparatus
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycoside catabolic process
- negative regulation of nitric-oxide synthase activity
- glycosphingolipid catabolic process
- glycosylceramide catabolic process
- oligosaccharide metabolic process
- negative regulation of nitric oxide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- Golgi apparatus
- lysosomal lumen
- extracellular region
- azurophil granule lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- alpha-galactosidase activity
- protein homodimerization activity
- protein binding
- galactoside binding
- catalytic activity
- receptor binding
- hydrolase activity