Aspa Gene Summary [Mouse]
This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | Aspa |
| Official Name | aspartoacylase [Source:MGI Symbol;Acc:MGI:87914] |
| Ensembl ID | ENSMUSG00000020774 |
| Bio databases IDs | |
| Aliases | aspartoacylase |
| Synonyms | ACY2, ASP, aspartoacylase, nur7 |
| Species | Mouse, Mus musculus |
| 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 mouse Aspa often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Succinylglutamate desuccinylase / Aspartoacylase family
- aminoacylase
- aspartoacylase
- enzyme
- protein binding
- M14 family of metallocarboxypeptidases and related proteins
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- neoplasia
- liver cancer
- mild Canavan disease
- hereditary disorder
- hepatocellular carcinoma
- Canavan disease
- prion disease
- diabetic nephropathy
- prostatic adenocarcinoma
phenotypes
- abnormal cornea morphology
- abnormal gait
- corneal opacity
- decreased exploration in new environment
- decreased food intake
- decreased grip strength
- decreased prepulse inhibition
- decreased startle reflex
- decreased vertical activity
- hyperactivity
- hypoactivity
- increased fasting circulating glucose level
- increased leukocyte cell number
- increased mean corpuscular volume
- increased total body fat amount
- limb grasping
- abnormal adipose tissue amount
- abnormal auditory brainstem response waveform shape
- abnormal brain morphology
- abnormal brain white matter morphology
- abnormal brainstem morphology
- abnormal diencephalon morphology
- abnormal enzyme/coenzyme level
- abnormal exploration in a new environment
- abnormal locomotor activation
- abnormal mean corpuscular volume
- abnormal muscle tone
- abnormal myelination
- abnormal neurotransmitter level
- abnormal oligodendrocyte morphology
- abnormal pain threshold
- abnormal prepulse inhibition
- abnormal retinal ganglion layer morphology
- abnormal retinal nerve fiber layer morphology
- abnormal sphingolipid level
- abnormal startle reflex
- astrocytosis
- ataxia
- axon degeneration
- brain vacuoles
- decreased anxiety-related response
- decreased body length
- decreased body size
- decreased body weight
- decreased bone mineral content
- decreased bone mineral density
- decreased gamma-aminobutyric acid level
- decreased glutamic acid level
- decreased total body fat amount
- demyelination
- enlarged lateral ventricles
- gliosis
- impaired coordination
- increased aspartic acid level
- increased or absent threshold for auditory brainstem response
- jerky movement
- lethargy
- megacephaly
- muscle hypertonia
- muscle weakness
- no abnormal phenotype detected
- paralysis
- premature death
- preweaning lethality incomplete penetrance
- seizures
- spongiform encephalopathy
- tremors
role in cell
- number
- proliferation
- phosphorylation in
- growth
- differentiation
- invasion by
- migration
- degeneration
- development
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Aspa gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acetate metabolic process
- central nervous system myelination
- aspartate metabolic process
- positive regulation of oligodendrocyte differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
Molecular Function
What the gene product does at the molecular level
- hydrolase activity, acting on ester bonds
- hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
- identical protein binding
- protein binding
- aspartoacylase activity
- metal ion binding