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Aliases for ADSL Gene

Aliases for ADSL Gene

  • Adenylosuccinate Lyase 2 3 5
  • Adenylosuccinase 3 4
  • EC 4 58
  • ASASE 3 4
  • AMPS 3 4
  • ASL 3 4
  • EC 4.3.2 58

External Ids for ADSL Gene

Previous GeneCards Identifiers for ADSL Gene

  • GC22P037357
  • GC22P038985
  • GC22P039067
  • GC22P040742
  • GC22P023705

Summaries for ADSL Gene

Entrez Gene Summary for ADSL Gene

  • The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for ADSL Gene

ADSL (Adenylosuccinate Lyase) is a Protein Coding gene. Diseases associated with ADSL include Adenylosuccinase Deficiency and Histidinemia. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity and (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity.

UniProtKB/Swiss-Prot for ADSL Gene

  • Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.

Additional gene information for ADSL Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADSL Gene

Genomics for ADSL Gene

Regulatory Elements for ADSL Gene

Enhancers for ADSL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H040321 2.4 Ensembl ENCODE dbSUPER 12.5 -22.3 -22286 4.7 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT ZBTB40 TCF12 ZNF766 GATA2 ELK1 ADSL GC22M042245
GH22H041284 1.8 FANTOM5 ENCODE dbSUPER 12.2 +941.8 941821 8.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 EP300 XRCC6 ENSG00000272834 EP300-AS1 ZC3H7B TEF ENSG00000232754 ENSG00000227413 ENSG00000235513 L3MBTL2
GH22H040382 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +39.5 39546 7 ELF3 PKNOX1 FOXA2 TCF12 SCRT2 ETV6 RUNX3 CREM IKZF2 EGR2 ENSG00000229999 ADSL MKL1 LOC101927257 SGSM3 GC22M042263
GH22H040484 1.2 Ensembl ENCODE dbSUPER 15.5 +140.0 139966 3.9 CTCF ZNF654 TRIM22 CEBPB REST RAD21 MAFF GLIS1 NBN ZNF143 MKL1 ADSL LOC101927257 ENSG00000229999 SGSM3 ENSG00000272834 RPL4P6 ATF4 ENSG00000227413
GH22H040950 1.4 FANTOM5 ENCODE 13.1 +605.1 605067 3.1 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 EP300 XRCC6 EP300-AS1 ADSL DNAJB7 ST13 XPNPEP3 RBX1 GC22P040976
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADSL on UCSC Golden Path with GeneCards custom track

Promoters for ADSL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146483 100 2001 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207

Genomic Locations for ADSL Gene

Genomic Locations for ADSL Gene
43,964 bases
Plus strand

Genomic View for ADSL Gene

Genes around ADSL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADSL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADSL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADSL Gene

Proteins for ADSL Gene

  • Protein details for ADSL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Adenylosuccinate lyase
    Protein Accession:
    Secondary Accessions:
    • B0QY76
    • O75495
    • Q5TI34

    Protein attributes for ADSL Gene

    484 amino acids
    Molecular mass:
    54889 Da
    Quaternary structure:
    • Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to each active site.
    • Sequence=AAC60603.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA46697.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADSL Gene

    Alternative splice isoforms for ADSL Gene


neXtProt entry for ADSL Gene

Selected DME Specific Peptides for ADSL Gene


Post-translational modifications for ADSL Gene

  • Ubiquitination at posLast=134134, Lys170, posLast=276276, and Lys415
  • Modification sites at PhosphoSitePlus

Domains & Families for ADSL Gene

Gene Families for ADSL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily.
  • Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily.
genes like me logo Genes that share domains with ADSL: view

Function for ADSL Gene

Molecular function for ADSL Gene

GENATLAS Biochemistry:
adenylosuccinate lyase,twelfth step of the de novo purine (adenylate) biosynthesis component of a bifunctional enzyme also catalyzing the eight step of the de novo purine biosynthesis,i.e,the conversion of SAICAR to AICAR (amino-imidazole carboxamide ribonucleotide),also involved in the purine nucleotide cycle
UniProtKB/Swiss-Prot CatalyticActivity:
N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMP.
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.
UniProtKB/Swiss-Prot EnzymeRegulation:
The enzyme reaction kinetics indicate cooperativity between subunits.
UniProtKB/Swiss-Prot Function:
Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.

Enzyme Numbers (IUBMB) for ADSL Gene

Phenotypes From GWAS Catalog for ADSL Gene

Gene Ontology (GO) - Molecular Function for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004018 N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity IEA,TAS --
GO:0016829 lyase activity IEA --
GO:0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity IBA,IEA --
genes like me logo Genes that share ontologies with ADSL: view
genes like me logo Genes that share phenotypes with ADSL: view

Human Phenotype Ontology for ADSL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADSL Gene

MGI Knock Outs for ADSL:
  • Adsl tm1b(KOMP)Wtsi

miRNA for ADSL Gene

miRTarBase miRNAs that target ADSL

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ADSL Gene

Localization for ADSL Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADSL gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ADSL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ADSL Gene

Pathways & Interactions for ADSL Gene

genes like me logo Genes that share pathways with ADSL: view

Pathways by source for ADSL Gene

1 GeneGo (Thomson Reuters) pathway for ADSL Gene

UniProtKB/Swiss-Prot P30566-PUR8_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2.
  • Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 2/2.

Gene Ontology (GO) - Biological Process for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006163 purine nucleotide metabolic process IEA --
GO:0006164 purine nucleotide biosynthetic process IC,IEA 10888601
GO:0006167 AMP biosynthetic process IDA 11428554
GO:0006189 de novo IMP biosynthetic process IEA --
genes like me logo Genes that share ontologies with ADSL: view

No data available for SIGNOR curated interactions for ADSL Gene

Drugs & Compounds for ADSL Gene

(16) Drugs for ADSL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
AICAR Experimental Pharma AMPK activator 0
Adenylsuccinic acid Experimental Pharma 0
SB-649868 Experimental Pharma Antagonist 0

(17) Additional Compounds for ADSL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate
  • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinic acid
  • (S)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinate
  • (S)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinic acid
  • (S)-2-[5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido]succinate
  • 4-Amino-5-Imidazolecarboxamide
  • 4-Aminoimidazole-5-carboxamide
  • 4-Carbamoyl-5-aminoimidazole
  • 4-Carboxamido-5-aminoimidazole
  • 5-Amino-1H-Imidazole-4-carboxamide
Argininosuccinic acid
  • 2-(N(Omega)-L-arginine)succinate
  • 2-(N(Omega)-L-arginine)succinic acid
  • 2-(N(Omega)-L-arginino)succinate
  • 2-(N(Omega)-L-arginino)succinic acid
  • 2-(Nw-L-arginino)butanedioate
genes like me logo Genes that share compounds with ADSL: view

Transcripts for ADSL Gene

Unigene Clusters for ADSL Gene

Adenylosuccinate lyase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADSL Gene

No ASD Table

Relevant External Links for ADSL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADSL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADSL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADSL Gene

This gene is overexpressed in Muscle - Skeletal (x6.7).

Protein differential expression in normal tissues from HIPED for ADSL Gene

This gene is overexpressed in Lymph node (9.9) and Tonsil (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADSL Gene

Protein tissue co-expression partners for ADSL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADSL Gene:


SOURCE GeneReport for Unigene cluster for ADSL Gene:


mRNA Expression by UniProt/SwissProt for ADSL Gene:

Tissue specificity: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.

Evidence on tissue expression from TISSUES for ADSL Gene

  • Nervous system(4.8)
  • Muscle(4.6)
  • Liver(4.5)
  • Eye(4.4)
  • Skin(3.3)
  • Lung(2.9)
  • Blood(2.8)
  • Intestine(2.7)
  • Kidney(2.5)
  • Spleen(2.3)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADSL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • outer ear
  • skull
  • lower limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ADSL: view

Orthologs for ADSL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADSL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADSL 33 34
  • 99.1 (n)
(Canis familiaris)
Mammalia ADSL 33
  • 90.63 (n)
(Bos Taurus)
Mammalia ADSL 33 34
  • 89.81 (n)
-- 34
  • 77 (a)
(Mus musculus)
Mammalia Adsl 16 34 33
  • 86.91 (n)
(Rattus norvegicus)
Mammalia Adsl 33
  • 86.23 (n)
(Ornithorhynchus anatinus)
Mammalia ADSL 34
  • 83 (a)
(Monodelphis domestica)
Mammalia ADSL 34
  • 78 (a)
(Gallus gallus)
Aves ADSL 34 33
  • 75.53 (n)
(Anolis carolinensis)
Reptilia ADSL 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adsl 33
  • 73.45 (n)
Str.3693 33
African clawed frog
(Xenopus laevis)
Amphibia adsl-prov 33
(Danio rerio)
Actinopterygii adsl 33 34
  • 69.84 (n)
wufi60b04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.103 33
fruit fly
(Drosophila melanogaster)
Insecta CG3590 35 33 34
  • 64.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002378 33
  • 63.34 (n)
(Caenorhabditis elegans)
Secernentea R06C7.5 34
  • 46 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL006C 33
  • 61.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE13 33 34 36
  • 59.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13189g 33
  • 59.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4901 34
  • 67 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade8 33
  • 58.9 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06187 33
  • 57.5 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14641 33
Species where no ortholog for ADSL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADSL Gene

Gene Tree for ADSL (if available)
Gene Tree for ADSL (if available)

Paralogs for ADSL Gene Pseudogenes for ADSL Gene

genes like me logo Genes that share paralogs with ADSL: view

No data available for Paralogs for ADSL Gene

Variants for ADSL Gene

Sequence variations from dbSNP and Humsavar for ADSL Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs119450940 Pathogenic, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,365,000(+) TTCAC(C/T)CCCAG intron-variant, nc-transcript-variant, reference, missense
rs119450941 Pathogenic, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,364,965(+) AGAGC(A/G)TATCC intron-variant, nc-transcript-variant, reference, missense
rs119450942 Pathogenic, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,349,976(+) GCTGT(C/G)CAAAA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs119450943 other, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,364,952(+) ACAAT(G/T)ACCTC intron-variant, nc-transcript-variant, reference, missense
rs119450944 Pathogenic, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,360,436(+) CACGA(A/G)AAGTG nc-transcript-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ADSL Gene

Variant ID Type Subtype PubMed ID
nsv834202 CNV loss 17160897

Variation tolerance for ADSL Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADSL Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADSL Gene

Disorders for ADSL Gene

MalaCards: The human disease database

(15) MalaCards diseases for ADSL Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adenylosuccinase deficiency
  • adenylosuccinate lyase deficiency
  • histidinuria
erythematosquamous dermatosis
  • erythematosquamous dermatosis nos
argininosuccinic aciduria
  • citrullinemia
autistic disorder
  • autism
- elite association - COSMIC cancer census association via MalaCards
Search ADSL in MalaCards View complete list of genes associated with diseases


  • Adenylosuccinase deficiency (ADSLD) [MIM:103050]: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. {ECO:0000269 PubMed:10090474, ECO:0000269 PubMed:10888601, ECO:0000269 PubMed:10958654, ECO:0000269 PubMed:12368987, ECO:0000269 PubMed:12833398, ECO:0000269 PubMed:1302001, ECO:0000269 PubMed:19405474, ECO:0000269 PubMed:22812634, ECO:0000269 PubMed:9266401, ECO:0000269 PubMed:9545543}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ADSL Gene

mental retardation,severe,with autistic features and succinylpurinemia

Relevant External Links for ADSL

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ADSL: view

Publications for ADSL Gene

  1. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2. (PMID: 8404037) Fon EA … Rouleau GA (Cytogenetics and cell genetics 1993) 2 3 4 22 60
  2. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. (PMID: 19405474) Ariyananda Lde Z … Colman RF (Biochemistry 2009) 3 4 22 60
  3. Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase. (PMID: 16973378) Lee P … Colman RF (Protein expression and purification 2007) 3 4 22 60
  4. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (PMID: 12833398) Edery P … Tardieu M (American journal of medical genetics. Part A 2003) 3 4 22 60
  5. Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (PMID: 12368987) Castro M … Ugarte M (Neuropediatrics 2002) 3 4 22 60

Products for ADSL Gene

Sources for ADSL Gene

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