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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ASL
argininosuccinate lyase
Chromosome 7 Β· 7q11.21
NCBI Gene: 435Ensembl: ENSG00000126522.18HGNC: HGNC:746UniProt: A0A024RDL8
64PubMed Papers
21Diseases
0Drugs
238Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingarginine metabolic processL-arginine biosynthetic processpositive regulation of nitric oxide biosynthetic processargininosuccinic aciduriagenetic disorderNeurodevelopmental disorderSeizure
✦AI Summary

Argininosuccinate lyase (ASL) catalyzes the fourth step of the urea cycle, cleaving argininosuccinate into fumarate and arginine 1. This reaction is essential for hepatic nitrogen detoxification and de novo arginine synthesis in non-hepatic tissues 1. ASL functions as a critical regulator of intracellular and extracellular arginine pools and forms tissue-specific multiprotein complexes with other urea cycle enzymes and nitric oxide synthases, channeling locally synthesized arginine to nitric oxide production 1. Recent evidence demonstrates that cardiac ASL activation through time-restricted feeding protects against heart failure by upregulating the cardiac urea cycle and generating urea cycle-derived nitric oxide 2. ASL deficiency (ASLD) is the second most common urea cycle disorder, affecting approximately 1 in 70,000 live births 1. Clinically, ASLD manifests as either severe neonatal-onset hyperammonemia or late-onset episodic hyperammonemia with long-term complications including liver dysfunction, neurocognitive deficits, and hypertension 1. Notably, some patients develop severe neurological disease without experiencing hyperammonemia, suggesting ASL has functions beyond ureagenesis 1. Over 134 different ASL mutations have been identified across diverse populations 3. Current treatment includes protein restriction and arginine supplementation, with emerging approaches using CRISPR base editing showing promise for restoring urea cycle function 4.

Sources cited
1
ASL catalyzes the fourth urea cycle reaction, is the second most common UCD cause, and has functions beyond ureagenesis affecting neurocognition and blood pressure
PMID: 22241104
2
Cardiac ASL activation protects against heart failure through urea cycle upregulation and nitric oxide production
PMID: 39467073
3
Over 134 different ASL mutations have been identified across diverse populations with variable clinical outcomes
PMID: 24166829
4
CRISPR adenine base editors can correct ASL variants and restore urea cycle function in patient-derived cells
PMID: 38579669
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
argininosuccinic aciduriaOpen Targets
0.87Strong
genetic disorderOpen Targets
0.49Moderate
Neurodevelopmental disorderOpen Targets
0.44Moderate
AtaxiaOpen Targets
0.37Weak
cerebellar ataxiaOpen Targets
0.37Weak
DystoniaOpen Targets
0.37Weak
essential tremorOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
TremorOpen Targets
0.37Weak
Congenital myasthenic syndromesOpen Targets
0.34Weak
pituitary gland diseaseOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.19Weak
autismOpen Targets
0.11Weak
hyperuricemic nephropathy, familial juvenile type 4Open Targets
0.04Suggestive
histidinemiaOpen Targets
0.04Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.04Suggestive
atypical hemolytic-uremic syndrome with C3 anomalyOpen Targets
0.03Suggestive
carbamoyl phosphate synthetase I deficiency diseaseOpen Targets
0.03Suggestive
atypical hemolytic-uremic syndrome with thrombomodulin anomalyOpen Targets
0.03Suggestive
Argininosuccinic aciduriaUniProt
Pathogenic Variants238
NM_000048.4(ASL):c.446+1G>APathogenic
not provided|Argininosuccinate lyase deficiency|Acute myeloid leukemia|Familial cancer of breast|Malignant tumor of urinary bladder
β˜…β˜…β˜†β˜†2026
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)Pathogenic
not provided|Argininosuccinate lyase deficiency|Inborn genetic diseases|ASL-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 12
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)Pathogenic
Argininosuccinate lyase deficiency|not provided|ASL-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 379
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)Pathogenic
Argininosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 286
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)Pathogenic
Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 113
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)Pathogenic
not provided|Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 193
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)Pathogenic
Argininosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 100
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)Likely pathogenic
Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 379
NM_000048.4(ASL):c.688A>G (p.Met230Val)Pathogenic
Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 230
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)Pathogenic
Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 236
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)Pathogenic
Argininosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 236
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)Pathogenic
not provided|Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 217
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)Pathogenic
not provided|Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 182
NM_000048.4(ASL):c.532G>A (p.Val178Met)Pathogenic
Argininosuccinate lyase deficiency|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 178
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)Pathogenic
Argininosuccinate lyase deficiency|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 186
NM_000048.4(ASL):c.446+2T>CPathogenic
Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)Pathogenic
Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 456
NM_000048.4(ASL):c.447-1G>APathogenic
Argininosuccinate lyase deficiency|not provided|Sarcoma
β˜…β˜…β˜†β˜†2025
NM_000048.4(ASL):c.284G>A (p.Arg95His)Pathogenic
Argininosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 95
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)Pathogenic
Argininosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 94
View on ClinVar β†—
Related Genes
ASS1Protein interaction100%IDH3AProtein interaction100%IDH3BProtein interaction100%SDHDProtein interaction100%SDHCProtein interaction100%CPS1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
10%
Ovary
7%
Bone Marrow
7%
Heart
3%
Brain
3%
Gene Interaction Network
Click a node to explore
ASLASS1IDH3AIDH3BSDHDSDHCCPS1
PROTEIN STRUCTURE
Preparing viewer…
PDB1K62 Β· 2.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.59–0.94]
RankingsWhere ASL stands among ~20K protein-coding genes
  • #7,237of 20,598
    Most Researched64
  • #267of 5,498
    Most Pathogenic Variants238 Β· top 5%
  • #8,705of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedASL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Recommended implementation of arterial spin-labeled perfusion MRI for clinical applications: A consensus of the ISMRM perfusion study group and the European consortium for ASL in dementia.
PMID: 24715426
Magn Reson Med Β· 2015
1.00
2
Argininosuccinate lyase deficiency.
PMID: 22241104
Genet Med Β· 2012
0.90
3
Modelling mucociliary clearance.
PMID: 18439882
Respir Physiol Neurobiol Β· 2008
0.80
4
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
PMID: 24166829
Hum Mutat Β· 2014
0.70
5
Myocardial arterial spin labeling.
PMID: 27071861
J Cardiovasc Magn Reson Β· 2016
0.60