ASPA Gene - Aspartoacylase
Genetic and Functional Insights into ASPA, the Gene Encoding Aspartoacylase, Associated with Canavan Disease
Gene Information Card
| Symbol | ASPA |
|---|---|
| Full Name | Aspartoacylase |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 443 ncbi.nlm.nih.gov/gene/443 |
| Ensembl ID | ENSG00000108381 |
| UniProt ID | P45381 |
| OMIM ID | 608034 |
| HGNC ID | 756 |
| Aliases | ACY2, ASP, ASPA, Canavan disease |
Description
The ASPA gene encodes aspartoacylase, an enzyme that catalyzes the deacetylation of N-acetylaspartate (NAA) to acetate and aspartate in the central nervous system. This reaction is critical for myelin synthesis and maintenance. Mutations in ASPA cause Canavan disease, a severe autosomal recessive leukodystrophy characterized by spongy degeneration of the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Canavan disease | Loss-of-function mutations in ASPA lead to accumulation of NAA in the brain, causing oligodendrocyte dysfunction and spongy degeneration. | ClinVar, OMIM |
| Spongy degeneration of the brain | Deficient aspartoacylase activity results in NAA accumulation, osmotic imbalance, and myelin vacuolation. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Kidney | 4.2 | Medium |
| Liver | 2.1 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.3 | Neuronal cell line |
| U-87 MG | 6.7 | Glioblastoma cell line |
| HEK293 | 3.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.854A>C (p.Glu285Ala) | Missense | Common in Ashkenazi Jewish population | Loss of enzyme activity |
| c.693C>A (p.Tyr231Ter) | Nonsense | Rare | Premature truncation, loss of function |
| c.914C>A (p.Ala305Glu) | Missense | Rare | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most ASPA mutations result in complete or partial loss of aspartoacylase activity, leading to NAA accumulation and Canavan disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ASPA.
Dominant Negative (DN)
No dominant-negative effects have been described; the disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • aspartoacylase activity (GO:0004060) | • glutamate catabolic process (GO:0006543) |
| • central nervous system development (GO:0007417) | • myelination (GO:0042552) |
| • cytoplasm (GO:0005737) |
Pathways
• Metabolism of N-acetylaspartate
• NAA metabolism in the brain
Protein Summary
Aspartoacylase is a 313-amino acid enzyme that hydrolyzes N-acetylaspartate (NAA) into acetate and aspartate. It is predominantly expressed in oligodendrocytes and plays a key role in myelin lipid synthesis. Deficiency leads to Canavan disease, a fatal leukodystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPA Knockout HEK293 Cell Line | EDJ-KQ4106 | Human | 443 | Details Get a Quote |
| ASPA Knockout HeLa Cell Line | EDJ-KQ52674 | Human | 443 | Details Get a Quote |
| ASPA Knockout A-549 Cell Line | EDJ-KQ61146 | Human | 443 | Details Get a Quote |
| ASPA Knockout HCT 116 Cell Line | EDJ-KQ69634 | Human | 443 | Details Get a Quote |
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