ASL
Chr 7ARargininosuccinate lyase
Also known as: ASAL, ASLD
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene — mechanism propensity
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
197 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 2 | 3 | 0 | 10 |
Likely Pathogenic | 16 | 18 | 0 | 0 | 34 |
VUS | 0 | 45 | 11 | 6 | 62 |
Likely Benign | 0 | 0 | 57 | 15 | 72 |
Benign | 0 | 0 | 3 | 0 | 3 |
| Total | 21 | 65 | 74 | 21 | 181 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →3 pathogenic / likely-pathogenic (of 3) ClinVar copy-number / structural variants overlap ASL — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
ASL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Efficacy and Safety of TYRA-300 in Participants With FGFR3 Altered Low Grade, Intermediate Risk Non-Muscle Invasive Bladder Cancer
RECRUITINGA Study of Clinical Outcomes in Participants With EGFR Mutated Advanced Non-Small Cell Lung Cancer (NSCLC) in a Real-World Setting
RECRUITINGDevelopment of a Registry to Assess Natural History in Duchenne Muscular Dystrophy
NOT YET RECRUITINGEffects of Wild Blueberry Consumption on Brain Function in Elderly
RECRUITINGA Phase I/II Open-label Safety and Efficacy Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders.
NOT YET RECRUITINGEfficacy and Safety of Vamifeport in Adult Participants With Homeostatic Iron Regulator Gene (HFE)-Related Hereditary Hemochromatosis
RECRUITINGImpact of a Perioperative Physical Exercise and Respiratory Physiotherapy Program on the Patient Undergoing Bariatric Surgery
RECRUITINGA Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for the Treatment of Participants With Deleterious Germline or Somatic Homologous Recombination Repair (HRR) Gene-Mutated Metastatic Castration-Sensitive Prostate Cancer (mCSPC)
ACTIVE NOT RECRUITINGTrial of Low Dose Tamoxifen in Women With Breast Intraepithelial Neoplasia - Long Term Follow-up
ACTIVE NOT RECRUITINGA Study of Erdafitinib Compared With Vinflunine or Docetaxel or Pembrolizumab in Participants With Advanced Urothelial Cancer and Selected Fibroblast Growth Factor Receptor (FGFR) Gene Aberrations
ACTIVE NOT RECRUITINGDouble Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC
ACTIVE NOT RECRUITINGDapagliflozin on Renal Morphology and Renal Perfusion in Patients One Year After Kidney Transplantation
RECRUITINGExternal Resources
Links to major genomics databases and tools