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: 122622
MIM: 612498
HGNC: 20093
Ensembl: ENSG00000185100
Variants:
dbSNP: 122622
ClinVar: 122622
TCGA: ENSG00000185100
COSMIC: ADSS1
RNA/Proteins
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32646962 | 2020 | ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. | 8 |
| 32646962 | 2020 | ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. | 8 |
| 28268051 | 2017 | Distal myopathy with ADSSL1 mutations in Korean patients. | 4 |
| 28268051 | 2017 | Distal myopathy with ADSSL1 mutations in Korean patients. | 4 |
| 26506222 | 2016 | ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. | 12 |
| 26506222 | 2016 | ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. | 12 |
| 15786719 | 2005 | Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. | 9 |
| 15786719 | 2005 | Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. | 9 |
Citation
Dessen P
ADSS1 (adenylosuccinate synthase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60176/adss1-(adenylosuccinate-synthase-1)
