ASL Gene - Argininosuccinate Lyase
Comprehensive gene resource for ASL, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ASL |
|---|---|
| Full Name | Argininosuccinate Lyase |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.21 |
| NCBI Gene ID | 435 ncbi.nlm.nih.gov/gene/435 |
| Ensembl ID | ENSG00000126522 |
| UniProt ID | P04424 |
| OMIM ID | 608310 |
| HGNC ID | 746 |
| Aliases | argininosuccinase, ASAL |
Description
The ASL gene encodes argininosuccinate lyase, a cytosolic enzyme that catalyzes the reversible cleavage of argininosuccinate to arginine and fumarate, the final step of the urea cycle. This enzyme is critical for ammonia detoxification and arginine biosynthesis. Mutations in ASL cause argininosuccinic aciduria, a urea cycle disorder characterized by hyperammonemia and accumulation of argininosuccinic acid.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Argininosuccinic Aciduria | Loss-of-function mutations in ASL impair the conversion of argininosuccinate to arginine and fumarate, leading to accumulation of argininosuccinate and ammonia toxicity. | ClinVar, OMIM |
| Hypertension, Pulmonary | Reduced ASL activity in endothelial cells leads to decreased nitric oxide production, contributing to pulmonary hypertension. | OMIM, PubMed |
| Neurodevelopmental Delay | Chronic hyperammonemia and arginine deficiency due to ASL deficiency cause neurological impairment. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small Intestine | 6.1 | Medium |
| Brain | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver cancer cell line, high expression |
| HEK293 | 4.7 | Embryonic kidney, moderate expression |
| A549 | 2.1 | Lung carcinoma, low expression |
| K562 | 1.3 | Leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.857A>G (p.Gln286Arg) | Missense | ~5% in affected populations | Reduced enzyme activity, associated with argininosuccinic aciduria |
| c.346C>T (p.Arg116Ter) | Nonsense | ~2% | Premature stop, loss of function |
| c.1159G>A (p.Gly387Arg) | Missense | ~3% | Impaired catalytic activity |
| c.1279_1280del (p.Leu427fs) | Frameshift | <1% | Loss of function, severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most ASL mutations are loss-of-function, reducing or abolishing argininosuccinate lyase activity, leading to argininosuccinic aciduria.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ASL.
Dominant Negative (DN)
No dominant-negative mutations have been described for ASL.
View complete mutation data：
Gene Ontology (GO)
| • argininosuccinate lyase activity (GO:0004056) | • arginine biosynthetic process (GO:0006526) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • urea cycle (GO:0000050) |
Pathways
• Urea cycle (Reactome: R-HSA-70635)
• Arginine and proline metabolism (KEGG: hsa00330)
Protein Summary
Argininosuccinate lyase (ASL) is a homotetrameric cytosolic enzyme of 464 amino acids. It catalyzes the conversion of argininosuccinate to arginine and fumarate. The enzyme is essential for ammonia detoxification and nitric oxide production. Deficiency leads to argininosuccinic aciduria, with accumulation of argininosuccinate and hyperammonemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASL Knockout HEK293 Cell Line | EDJ-KQ3432 | Human | 435 | Details Get a Quote |
| ASL Knockout A-549 Cell Line | EDJ-KQ26490 | Human | 435 | Details Get a Quote |
| ASL Knockout HCT 116 Cell Line | EDJ-KQ26492 | Human | 435 | Details Get a Quote |
| ASL Knockout HeLa Cell Line | EDJ-KQ26493 | Human | 435 | Details Get a Quote |
