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Aliases for ADSL Gene

Aliases for ADSL Gene

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

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 Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for ADSL Gene

Promoters and enhancers for ADSL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J040345 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.2 173 3.3 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ADSL ENSG00000284431 EP300 EP300-AS1 ENSG00000272834 LOC100313968 ENSG00000227413 ENSG00000229999 ENSG00000232754 SGSM3
GH22J040367 Promoter/Enhancer 0.7 EPDnew dbSUPER 661.6 +21.4 21446 0.1 ADSL SGSM3 GC22P040360 ENSG00000284431
GH22J041284 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 +941.8 941821 8.1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 RANGAP1 EP300 XRCC6 ENSG00000272834 EP300-AS1 ENSG00000232754 ENSG00000227413 L3MBTL2 NAGA ZC3H7B
GH22J040950 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 13.1 +605.1 605067 3.1 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 RBX1 EP300 XRCC6 EP300-AS1 ADSL DNAJB7 XPNPEP3 ST13 GC22P040976
GH22J040853 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 +509.3 509293 5.5 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B E2F8 ZNF207 XPNPEP3 GC22M042495 ST13 XRCC6 EP300-AS1 ADSL EP300 CSDC2 SLC25A17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADSL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADSL gene promoter:
  • E2F-3a
  • E2F
  • E2F-1
  • E2F-2
  • IRF-7A
  • E2F-4
  • E2F-5
  • Nkx2-5
  • Olf-1
  • c-Myb

Genomic Locations for ADSL Gene

Genomic Locations for ADSL Gene
43,964 bases
Plus strand
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

Post-translational modifications for ADSL Gene

  • Ubiquitination at posLast=415415, posLast=276276, Lys170, and posLast=134134
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADSL Gene

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

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.
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.
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

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 Adsl<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ADSL

Clone Products

  • Addgene plasmids for ADSL

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
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 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 IDA,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, Investigational Nutra 0
AICAR Experimental, Investigational Pharma AMPK activator 0
Adenylsuccinic acid Experimental Pharma 0
SB-649868 Experimental, Investigational Pharma Antagonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2S)-2-[5-amino-1-(5-phospho-beta-D-Ribosyl)imidazole-4-carboxamido]succinic acid
  • (S)-2-[5-amino-1-(5-phospho-D-Ribosyl)imidazole-4-carboxamido]succinate
  • 1-(5'-Phosphoribosyl)-4-(N-succinocarboxamide)-5-aminoimidazole
  • 1-(5'-Phosphoribosyl)-5-amino-4-(N-succinocarboxamide)-imidazole
  • 5'-Phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole
  • 4-amino-5-Carbamoylimidazole
  • 4-amino-5-Imidazolecarboxamide
  • 5(4)-amino-4(5)-Imidazolecarboxamide
  • 5-amino-4-Imidazolecarboxyamide
  • 4-Aminoimidazole-5-carboxamide
Argininosuccinic acid
  • 2-(Nomega-L-arginino)succinate
  • L-Argininosuccinate
  • L-Argininosuccinic acid
  • L-Arginosuccinic acid
  • 2-(Nomega-L-arginino)succinic acid
  • N6-(1,2-Dicarboxyethyl)AMP
  • Adenylosuccinate
  • Adenylosuccinic acid
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

  • Addgene plasmids for ADSL

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, 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(2.4)
  • Heart(2.1)
  • Stomach(2)

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 34 33
  • 99.1 (n)
(Canis familiaris)
Mammalia ADSL 33
  • 90.63 (n)
(Bos Taurus)
Mammalia ADSL 34 33
  • 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 34 33
  • 69.84 (n)
wufi60b04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.103 33
fruit fly
(Drosophila melanogaster)
Insecta CG3590 34 35 33
  • 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 36 34 33
  • 59.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13189g 33
  • 59.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4901 34
  • 67 (a)
Cin.14641 33
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)
Evolutionary constrained regions (ECRs) for ADSL: view image

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 Variation AA Info Type
rs1006262492 uncertain-significance, Adenylosuccinate lyase deficiency 40,361,541(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11089991 conflicting-interpretations-of-pathogenicity, benign, not specified, Adenylosuccinate lyase deficiency, not provided 40,354,285(+) A/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs113199851 conflicting-interpretations-of-pathogenicity, not specified, Adenylosuccinate lyase deficiency 40,353,069(+) G/A genic_upstream_transcript_variant, intron_variant
rs119450940 pathogenic, Adenylosuccinate lyase deficiency, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,365,000(+) T/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs119450941 pathogenic, likely-pathogenic, Adenylosuccinate lyase deficiency, not provided, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,364,965(+) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for ADSL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADSL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
adenylosuccinase deficiency
  • adsld
  • histidine ammonia-lyase deficiency
erythematosquamous dermatosis
  • other erythematosquamous dermatosis
argininosuccinic aciduria
  • argininosuccinase deficiency
lesch-nyhan syndrome
  • lns
- 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

Additional Disease Information for ADSL

Genetic Association Database
Human Genome Epidemiology 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 58
  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 58
  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 58
  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 58
  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 58

Products for ADSL Gene

  • Addgene plasmids for ADSL

Sources for ADSL Gene

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