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]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
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
A 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 RECRUITINGPivotal 2 Study of RGX-314 Gene Therapy in Participants With nAMD
ACTIVE NOT RECRUITINGDapagliflozin on Renal Morphology and Renal Perfusion in Patients One Year After Kidney Transplantation
RECRUITINGPeanut Butter and Brain Health
NOT YET RECRUITINGApolipoprotein E (APOE) Genotype Effects on Triglycerides and Blood Flow in the Human Brain
ACTIVE NOT RECRUITINGMagnetic Resonance Imaging in Patients with Trigeminal Neuralgia
NOT YET 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 RECRUITINGEfficacy and Safety of Vamifeport in Adult Participants With Homeostatic Iron Regulator Gene (HFE)-Related Hereditary Hemochromatosis
RECRUITINGBiological Analysis of MABs in NHL in a Translational Prospective Observational Study Within Italian Clinical Practice
NOT YET RECRUITINGDevelopment of a Registry to Assess Natural History in Duchenne Muscular Dystrophy
NOT YET RECRUITINGStudy of LNP.UCD.ABE in Patients With Urea Cycle Disorders
RECRUITINGBRCA Mutation Carriers' Platform a Multicenter Study
RECRUITINGExternal Resources
Links to major genomics databases and tools