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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ADSL
adenylosuccinate lyase
Chromosome 22 Β· 22q13.1
NCBI Gene: 158Ensembl: ENSG00000239900.14HGNC: HGNC:291UniProt: A0A1B0GTG9
119PubMed Papers
21Diseases
0Drugs
71Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
AMP biosynthetic processidentical protein bindingprotein-containing complexN6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activityadenylosuccinate lyase deficiencyneurodegenerative diseasegenetic disorderIntellectual disability
✦AI Summary

ADSL (adenylosuccinate lyase) is a critical enzyme in de novo purine synthesis that catalyzes two non-sequential reactions: converting SAICAR to phosphoribosylaminoimidazole carboxamide (contributing to IMP synthesis) and converting succinyladenosine monophosphate to AMP, both reactions producing fumarate as a byproduct 1. Beyond its canonical metabolic role, ADSL exhibits important moonlighting functions in cancer biology. Under hypoxic conditions, ADSL becomes phosphorylated at T350 by IKKΞ² and translocates to the endoplasmic reticulum where its fumarate product binds STING, inhibiting cGAMP binding and suppressing immune activation, thereby promoting tumor immune evasion 2. Additionally, ADSL is phosphorylated at S140 by PERK during ER stress or lipid deprivation, enhancing its interaction with Beclin1. ADSL-produced fumarate inhibits lysine demethylase 8, leading to increased Beclin1 K117 dimethylation, which disrupts BCL-2-Beclin1 binding and promotes autophagy and liver tumor growth 34. ADSL deficiency, caused by various mutations including R303C, results in a rare autosomal recessive disorder characterized by neurological symptoms ranging from mild psychomotor delay to severe encephalopathy, with accumulation of substrate metabolites in body fluids 561. These findings highlight ADSL's dual role in both purine metabolism and cancer progression through its metabolite fumarate.

Sources cited
1
ADSL catalyzes two non-sequential reactions in purine synthesis and R303C mutation causes ADSL deficiency
PMID: 22812634
2
ADSL is phosphorylated at T350 by IKKΞ² under hypoxia and its fumarate product inhibits STING to promote tumor immune evasion
PMID: 40033100
3
ADSL is phosphorylated at S140 by PERK and enhances Beclin1 dimethylation through fumarate to promote autophagy
PMID: 39881212
4
ADSL-produced fumarate increases BECN1 dimethylation to promote autophagy and liver tumor growth
PMID: 40103200
5
ADSL deficiency causes variable neurological symptoms including psychomotor retardation and seizures
PMID: 16839792
6
ADSL deficiency presents with spectrum from mild to fatal neonatal forms with accumulation of substrate metabolites
PMID: 25112391
Disease Associationsβ“˜21
adenylosuccinate lyase deficiencyOpen Targets
0.85Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.49Moderate
Intellectual disabilityOpen Targets
0.46Moderate
Epileptic encephalopathyOpen Targets
0.46Moderate
Difficulty standingOpen Targets
0.43Moderate
Generalized myoclonic seizureOpen Targets
0.43Moderate
Inability to walkOpen Targets
0.43Moderate
Progressive neurologic deteriorationOpen Targets
0.43Moderate
Severe global developmental delayOpen Targets
0.43Moderate
lysosomal storage diseaseOpen Targets
0.36Weak
bipolar disorderOpen Targets
0.30Weak
prostatitisOpen Targets
0.30Weak
pregnancy disorderOpen Targets
0.29Weak
rhabdomyosarcomaOpen Targets
0.15Weak
Abnormality of the liverOpen Targets
0.12Weak
alcohol drinkingOpen Targets
0.12Weak
uterine fibroidOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
obesityOpen Targets
0.10Weak
Adenylosuccinase deficiencyUniProt
Pathogenic Variants71
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency|ADSL-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 190
NM_000026.4(ADSL):c.807dup (p.Arg270fs)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 270
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)Pathogenic
not provided|Progressive neurologic deterioration;Generalized myoclonic seizure;Severe global developmental delay;Difficulty standing;Inability to walk|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 141
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)Pathogenic
Adenylosuccinate lyase deficiency|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 426
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 318
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 396
NM_000026.4(ADSL):c.1191+5G>CPathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 85
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 337
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)Pathogenic
Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 408
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 303
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)Pathogenic
not provided|Adenylosuccinate lyase deficiency|Progressive neurologic deterioration;Generalized myoclonic seizure;Severe global developmental delay;Difficulty standing;Inability to walk|Inborn genetic diseases|ADSL-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 114
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 422
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 396
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 190
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 448
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 365
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 450
NM_000026.4(ADSL):c.926G>A (p.Arg309His)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 309
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)Pathogenic
Adenylosuccinate lyase deficiency|ADSL-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 246
View on ClinVar β†—
Related Genes
SURF4Protein interaction100%MTHFD2Protein interaction100%MTHFD2LProtein interaction100%SHMT1Protein interaction100%SHMT2Protein interaction100%ADKProtein interaction97%
Tissue Expression6 tissues
Lung
100%
Ovary
94%
Liver
79%
Brain
74%
Heart
36%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
ADSLSURF4MTHFD2MTHFD2LSHMT1SHMT2ADK
PROTEIN STRUCTURE
Preparing viewer…
PDB2J91 Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.55–0.92]
RankingsWhere ADSL stands among ~20K protein-coding genes
  • #3,951of 20,598
    Most Researched119 Β· top quartile
  • #1,025of 5,498
    Most Pathogenic Variants71 Β· top quartile
  • #8,364of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedADSL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ADSL-generated fumarate binds and inhibits STING to promote tumour immune evasion.
PMID: 40033100
Nat Cell Biol Β· 2025
1.00
2
ADSL promotes autophagy and tumor growth through fumarate-mediated Beclin1 dimethylation.
PMID: 39881212
Nat Chem Biol Β· 2025
0.90
3
Reactivating PTEN to impair glioma stem cells by inhibiting cytosolic iron-sulfur assembly.
PMID: 38507470
Sci Transl Med Β· 2024
0.80
4
Adenylosuccinate lyase deficiency.
PMID: 16839792
Mol Genet Metab Β· 2006
0.70
5
Adenylosuccinate lyase deficiency.
PMID: 25112391
J Inherit Metab Dis Β· 2015
0.60