Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 443
MIM: 608034
HGNC: 756
Ensembl: ENSG00000108381
Variants:
dbSNP: 443
ClinVar: 443
TCGA: ENSG00000108381
COSMIC: ASPA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37391709 | 2023 | Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer. | 0 |
| 37391709 | 2023 | Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer. | 0 |
| 33914734 | 2021 | Mapping the degradation pathway of a disease-linked aspartoacylase variant. | 8 |
| 33914734 | 2021 | Mapping the degradation pathway of a disease-linked aspartoacylase variant. | 8 |
| 30431265 | 2019 | Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase. | 1 |
| 30834272 | 2019 | First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan. | 6 |
| 30431265 | 2019 | Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase. | 1 |
| 30834272 | 2019 | First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan. | 6 |
| 24632142 | 2014 | Reexamination of aspartoacylase: is this human enzyme really a glycoprotein? | 1 |
| 25003821 | 2014 | Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. | 0 |
| 24632142 | 2014 | Reexamination of aspartoacylase: is this human enzyme really a glycoprotein? | 1 |
| 25003821 | 2014 | Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. | 0 |
| 22878930 | 2013 | Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent. | 2 |
| 24036223 | 2013 | New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. | 0 |
| 22878930 | 2013 | Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent. | 2 |
Citation
Dessen P
ASPA (aspartoacylase)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56197/aspa-(aspartoacylase)
