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: 158
MIM: 608222
HGNC: 291
Ensembl: ENSG00000239900
Variants:
dbSNP: 158
ClinVar: 158
TCGA: ENSG00000239900
COSMIC: ADSL
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37842880 | 2024 | Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature. | 1 |
| 37842880 | 2024 | Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature. | 1 |
| 31729379 | 2019 | Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer. | 18 |
| 31729379 | 2019 | Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer. | 18 |
| 29467457 | 2018 | Adenylosuccinate lyase enhances aggressiveness of endometrial cancer by increasing killer cell lectin-like receptor C3 expression by fumarate. | 18 |
| 30573755 | 2018 | Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase. | 3 |
| 29467457 | 2018 | Adenylosuccinate lyase enhances aggressiveness of endometrial cancer by increasing killer cell lectin-like receptor C3 expression by fumarate. | 18 |
| 30573755 | 2018 | Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase. | 3 |
| 23714113 | 2013 | Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. | 4 |
| 23714113 | 2013 | Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. | 4 |
| 22180458 | 2012 | Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. | 41 |
| 22812634 | 2012 | Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. | 8 |
| 22180458 | 2012 | Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. | 41 |
| 22812634 | 2012 | Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. | 8 |
| 20177786 | 2010 | Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. | 5 |
Citation
Dessen P
ADSL (adenylosuccinate lyase)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57969/adsl
