ADSL Gene
protein-coding GIFtS: 63
GCID: GC22P040742
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|
adenylosuccinate lyase
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Aliases
for ADSL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Adenylosuccinate Lyase1 2 | | Adenylosuccinase3 | | AMPS2 3 | | ASase3 | | ASL2 3 | | Adenylosuccinase3 | | EC 4.3.2.23 8 | | EC 4.3.28 | | ASASE2 | | |
Export aliases for ADSL gene to outside databasesPrevious GC identifers: GC22P037357 GC22P038985 GC22P039067 GC22P023705 |
Summaries
for ADSL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ADSL:
Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate frominosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate fromsuccinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal offumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism,psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Twotranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566Function: 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 plus5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, andconverts succinyladenosine monophosphate (SAMP) to AMP and fumarate
|
Genomic Views
for ADSL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ADSL gene promoter:
E2F-4 E2F-3a E2F-5 Olf-1 Nkx2-5 E2F-2 E2F E2F-1 c-Myb IRF-7A
Other transcription factors
Search SABiosciences Chromatin IP Primers for ADSL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADSL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q13.2 Ensembl cytogenetic band: 22q13.1 HGNC cytogenetic band: 22q13.1ADSL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P040742: view genomic region
(about GC identifiers)
Start:
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40,742,504 bp from pter |
End:
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40,764,823 bp from pter |
Size:
|
22,320 bases |
Orientation:
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plus strand |
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Proteins
for ADSL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566 (See
protein sequence)Recommended Name: Adenylosuccinate lyase Size: 484 amino acids; 54889 Da
Subunit: Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to eachactive site
Sequence caution: Sequence=AAC60603.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=CAA46697.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
4 PDB 3D structures from  and Proteopedia  for ADSL:2J91 (3D)
2VD6 (3D)
4FFX (3D)
4FLC (3D)
Secondary accessions: B0QY76 O75495 Q5TI34Alternative splicing: 2 isoforms: P30566-1 P30566-2 (Lacks enzymatic activity)Explore the universe of human proteins at neXtProt for ADSL: NX_P30566
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P30566
4/18 DME Specific Peptides for ADSL (P30566) (see all 18)
ADSL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000017.1 NP_001116850.1
ENSEMBL proteins: ENSP00000216194 ENSP00000389521 ENSP00000341429 ENSP00000390107 Reactome Protein details: P30566
Human Recombinant Protein Products for ADSL:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ADSL for ontologies About GeneDecksing
ADSL Antibody Products:
Assay Products for ADSL: |
Protein
Domains /
Families
for ADSL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ADSL for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P30566ProtoNet protein and cluster: P30566 1 Blocks protein family: IPB000362 Fumarate lyase
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566Similarity: Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily |
Function
for ADSL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: PUR8_HUMAN, P30566Function: 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 plus5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, andconverts succinyladenosine monophosphate (SAMP) to AMP and fumarateCatalytic activity: N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMPCatalytic activity: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate +5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamideEnzyme regulation: The enzyme reaction kinetics indicate cooperativity between subunits Genatlas biochemistry entry for ADSL:adenylosuccinate lyase,twelfth step of the de novo purine (adenylate) biosynthesis component of a bifunctional enzymealso 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): EC 4.3.2.21 2 EC 4.3.22
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004018 | N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity |
TAS | -- | | GO:0070626 | (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity |
IEA | -- |
ADSL for ontologies About GeneDecksing
Phenotypes:
1 MGI phenotypic allele  for Adsl (no phenotypes)
ADSL for phenotypes About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADSL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADSL (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ADSL (NM_000026) | |  | Sino Biological Human cDNA Clone for ADSL | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ADSL | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADSL |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADSL |
|
Pathways & Interactions
for ADSL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Purine metabolism | | | 2 | Metabolism | | | 3 | ATP/ITP metabolism | | | 4 | Nucleotide Metabolism | | | 5 | Alanine, aspartate and glutamate metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for ADSL
1  GeneGo (Thomson Reuters) Pathway for ADSL
1  BioSystems Pathway for ADSL
4 
Reactome Pathways for ADSL
3 
Kegg Pathways (Kegg details for ADSL):
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2Pathway: 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
ADSL for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADSL
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/104 Interacting proteins for ADSL (P305663 ENSP000002161944) via UniProtKB, MINT, STRING, and/or I2D (see all 104)
About this table
Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table
ADSL for ontologies About GeneDecksing
|
Drugs & Compounds
for ADSL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ADSL for compounds About GeneDecksing
 Browse Tocris compounds for ADSL
7 HMDB Compounds for ADSL About this table
10/27 Novoseek chemical compound relationships for ADSL gene (see all 27) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adenylosuccinate |
98.9 |
228 |
10673438 (8), 12392914 (7), 10926519 (6), 16973378 (6) (see all 80) |
| succinyladenosine |
98.5 |
34 |
10958654 (4), 15902552 (2), 8412003 (1), 9211192 (1) (see all 13) |
| saicar |
96.5 |
17 |
1872474 (3), 10958654 (2), 15902552 (2), 18830228 (2) (see all 10) |
| samp |
86.7 |
11 |
1872474 (3), 10958654 (2), 9211192 (1), 18524658 (1) (see all 6) |
| purine |
81.5 |
35 |
9211192 (1), 16839792 (1), 8845770 (1), 10727185 (1) (see all 26) |
| prpp |
72.5 |
3 |
15566465 (1), 11098885 (1) |
| aicar |
72.2 |
7 |
9211192 (1), 8412002 (1), 1872474 (1), 18524658 (1) (see all 5) |
| fumarate |
68 |
4 |
12392914 (1), 8530047 (1), 10673438 (1) |
| purine nucleoside |
52.9 |
2 |
16613999 (1), 10759467 (1) |
| adenylate |
49.7 |
11 |
2037296 (1), 8412003 (1), 12392914 (1), 8054268 (1) (see all 8) |
Search CenterWatch for drugs/clinical trials and news about ADSL / PUR8
|
Transcripts
for ADSL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ADSL gene (2 alternative transcripts): NM_000026.2 NM_001123378.1 Unigene Cluster for ADSL: Adenylosuccinate lyase Hs.75527 [show with all ESTs]Unigene Representative Sequence: AK2250428 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000216194(uc003ayp.4 uc003ays.4) ENST00000466863 ENST00000425605
ENST00000342312 ENST00000477111 ENST00000480775 ENST00000423176 ENST00000454266(uc010gyb.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADSL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADSL (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ADSL (NM_000026) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ADSL | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADSL |
Additional cDNA sequence: AF067853.1 AF067854.1 AK225042.1 AK291091.1 AK293722.1 AK298187.1 AK300705.1 AK308662.1 BC000253.1 BC018881.2 CR456368.1 S60710.1 X65867.1 24/35 DOTS entries (see all 35): DT.316819 DT.95245346 DT.101957367 DT.120649220 DT.97815882 DT.100885986 DT.95245369 DT.92446407 DT.120648885 DT.100885990 DT.120648915 DT.100671417 DT.97779515 DT.97859584 DT.100649322 DT.100730585 DT.100726546 DT.100885984 DT.100885992 DT.120649229 DT.95245347 DT.100645360 DT.100885985 DT.100885989 24/285 AceView cDNA sequences (see all 285): BM828364 CB135880 CB138783 CN482392 BP371366 BG823328 AU102539 BF026311 BQ894843 CR622395 BX348039 BG122629 BM844835 BM671915 AW328441 BU520871 CR616687 AU102543 CR603727 BM761006 BQ014594 BE256756 CA426174 BU537964
GeneLoc Exon Structure
|
Expression
for ADSL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ADSL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAAAATCAG
About this image
See ADSL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ADSL
SOURCE GeneReport for Unigene cluster: Hs.75527
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566Tissue specificity: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold lessabundant than isoform 1
SABiosciences Expression via Pathway-Focused PCR Array including ADSL:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ADSL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ADSL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADSL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADSL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADSL |
Orthologs
for ADSL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ADSL gene from 11/41 species (see all 41) About this table
ENSEMBL Gene Tree for ADSL (if available)
TreeFam Gene Tree for ADSL (if available) |
Paralogs
for ADSL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ADSL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ADSL (40742504 - 40764823 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ADSL: --
Human Gene Mutation Database (HGMD): ADSL
Locus Specific Mutation Databases (LSDB): ADSL
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADSL |
|
Disorders
/ Diseases
for ADSL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ADSL for disorders About GeneDecksing
OMIM gene information: 608222
OMIM disorders: 103050
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]. ADSL deficiencyis an autosomal recessive disorder characterized by the accumulation in the body fluids ofsuccinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children displaymarked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may beless profoundly retarded. Occasionally, growth retardation and muscular wasting are also present
20/32  diseases for ADSL (see all 32): About MalaCardsadenylosuccinase deficiency lesch-nyhan syndrome purine-pyrimidine metabolic disorder adenylosuccinate lyase deficiency
linitis plastica dihydropyrimidine dehydrogenase deficiency histidinemia metabolic disorders
autism spectrum disorder arts syndrome homocystinuria phenylketonuria
intellectual disability autistic disorder atopic dermatitis rosacea
microcephaly gout dermatitis neurologic diseases
6 diseases from the University of Copenhagen DISEASES database for ADSL:Rosacea Dihydropyrimidine dehydrogenase deficiency Histidinemia Atopic dermatitis
Autistic disorder Psoriasis 10/18 Novoseek disease relationships for ADSL gene (see all 18) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| argininosuccinate lyase deficiency |
84.1 |
13 |
9165520 (4), 7474894 (2), 15471876 (2), 19405474 (1) |
| autistic |
80.2 |
15 |
1302001 (2), 8845770 (1), 11428554 (1), 2111814 (1) (see all 12) |
| histidinemia |
78.1 |
2 |
10360421 (1), 11098885 (1) |
| mental retardation |
55 |
8 |
1302001 (2), 18830228 (2), 10673438 (1), 19405474 (1) (see all 5) |
| severe mental retardation |
53.6 |
1 |
11428554 (1) |
| encephalopathy neonatal |
52.4 |
1 |
17188615 (1) |
| epilepsy |
50.4 |
7 |
9553952 (2), 9266401 (1), 11042421 (1), 18830228 (1) (see all 6) |
| lesch-nyhan syndrome |
50.2 |
1 |
8976090 (1) |
| developmental delay |
45.7 |
1 |
15471876 (1) |
| metabolic disorder |
43.5 |
3 |
10727185 (1), 15902552 (1), 19405474 (1) |
Genatlas disease: ADSL mental retardation,severe,with autistic features and succinylpurinemia
Human Genome Epidemiology (HuGE) Navigator: ADSL (2 documents)
Export disorders for ADSL gene to outside databases
|
Publications
for ADSL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ADSL gene, integrated from 9 sources (see all 147):
(articles sorted by number of sources associating them with ADSL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2. (PubMed id 8404037)1, 2, 3, 9 Fon E.A.... Rouleau G.A. (1993)
- Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. (PubMed id 10888601)1, 2, 9 Kmoch S....Sebesta I. (2000)
- Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. (PubMed id 10090474)1, 2, 9 Marie S....van den Berghe G. (1999)
- Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase. (PubMed id 16973378)1, 2, 9 Lee P. and Colman R.F. (2007)
- Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (PubMed id 12833398)1, 2, 9 Edery P....Tardieu M. (2003)
- Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. (PubMed id 10958654)1, 2, 9 Race V.... Van den Berghe G. (2000)
- A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. (PubMed id 1302001)1, 2, 9 Stone R.L.... Dixon J.E. (1992)
- Biochemical and biophysical analysis of five disease- associated human adenylosuccinate lyase mutants. (PubMed id 19405474)1, 2, 9 Ariyananda L.d.e. .Z....Colman R.F. (2009)
- Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (PubMed id 12368987)1, 2, 9 Castro M.... Ugarte M. (2002)
- Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. (PubMed id 9545543)1, 2, 9 Verginelli D.... Gross M. (1998)
|
External Searches for ADSL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ADSL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ADSL gene
(According to HUGE)
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Specialized Databases showing ADSL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ADSL | Pharmacogenomics, SNPs, Pathways | | ADSLdb | http://www.icp.ucl.ac.be/adsldb/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ADSL |
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| Patent Information for ADSL gene:
Search GeneIP for patents involving ADSL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ADSL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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| | |  | OriGene Antibodies for ADSL | | OriGene shRNA RFP for ADSL | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ADSL | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ADSL | | | OriGene Protein Over-expression Lysate for ADSL | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ADSL | | OriGene 3'-UTR Clone for ADSL | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADSL | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADSL | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ADSL | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ADSL | | OriGene Custom Protein Services for ADSL | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ADSL | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADSL | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADSL | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADSL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADSL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADSL |
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| | | | Search Tocris compounds for ADSL |
| |  |  |  |  | | | | | | Recombinant Protein for ADSL |
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 | | | ADSL Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADSL |
|  |  |  |  | | | | Search ThermoFisher Antibodies for ADSL |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADSL |
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