ARSA Gene Summary [Human]
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
Details
| Type | Processed Transcript |
| Official Symbol | ARSA |
| Official Name | arylsulfatase A [Source:HGNC Symbol;Acc:HGNC:713] |
| Ensembl ID | ENSG00000100299 |
| Bio databases IDs | |
| Aliases | arylsulfatase A, metachromatic leucodystrophy |
| Synonyms | arylsulfatase A, As-2, AS-A, Cs, MLD, TISP73 |
| 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 ARSA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cerebroside-sulfatase
- alkaline phosphatases and sulfatases
- Domain of unknown function (DUF4976)
- sulfuric ester hydrolase
- Sulfatase
- calcium ion binding
- enzyme
- protein binding
- arylsulfatase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hearing loss
- demyelination
- deficiency of arylsulfatase A
- oligozoospermia
- mild metachromatic leukodystrophy
- severe metachromatic leukodystrophy
- ataxia
- late infantile metachromatic leukodystrophy
- neurodevelopmental disorder
- adult metachromatic leukodystrophy
role in cell
- formation
- apoptosis
- size
- degeneration
- autophagy by
- accumulation in
- phagocytosis by
- abnormal morphology
- quantity
- thickness
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
- Plasma Membrane
- endosomes
- lysosome
- endoplasmic reticulum lumen
- plasma membrane extracellular face
- lysosomal compartment
- acrosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARSA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular vesicular exosome
- lysosomal lumen
- extracellular region
- azurophil granule lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- sulfuric ester hydrolase activity
- calcium ion binding
- cerebroside-sulfatase activity
- arylsulfatase activity