Show Advanced Search
""
""

Advanced Search (alpha)

""
 
Search By
Section
for


Category   Symbol Source: HGNC EntrezGene Ensembl
GIFtS
Search by expression pattern


ASL Gene

protein-coding   GIFtS: 59

GC07P065540
argininosuccinate lyase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
"" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""Services    
 "" "" "" "" "" "" "" "" "" "" "" "" ""

Aliases &
Descriptions
for ASL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
argininosuccinate lyase1 2
ASAL2 3
arginosuccinase2
argininosuccinase2
EC 4.3.2.13
Arginosuccinase3

External Ids:    HGNC: 7461   Entrez Gene: 4352   Ensembl: ENSG000001265227   UniProtKB: P044243   

Search outside databases for aliases for ASL gene

Previous GC identifers: GC07P064180 GC07P064938 GC07P064952 GC07P064984 GC07P065178

Summaries
for ASL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  User Feedback		 Entrez Gene summary for ASL:
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily
catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the
liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder
argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on
the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been
described. (provided by RefSeq)

Genomic Views
for ASL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the ASL gene upstream (promoter) region "":
POU2F1   GATA-2   FAC1   YY1   SRF   GATA-1   GCNF-1   GCNF-2   CREB   CUTL1   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for ASL:  ""
MePH10278-2A   

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7cen-q11.2   Ensembl cytogenetic band:  7q11.21   HGNC cytogenetic band: 7pter-q22

ASL Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P065540:  view genomic region     (about GC identifiers)

Start:
 65,540,776 bp from pter
End:
 65,617,228 bp from pter
Size:
 76,453 bases
Orientation:
 plus strand

1 alternative location:
Chr7+,CRA_TCAG 64,878,281-64,895,827     
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NT_079593.2  

Proteins
for ASL gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424 (See protein sequence)
Recommended Name: Argininosuccinate lyase  
Size: 464 amino acids; 51658 Da
Subunit: Homotetramer
Sequence caution: Sequence=AAA51786.1; Type=Frameshift; Positions=387, 452;
PDB structure from "" and Proteopedia "" :
1AOS (3D) ""    1K62 (3D) ""    
Secondary accessions: Q6LDS5 Q96HS2

REFSEQ proteins (4 alternative transcripts): 
NP_000039.2  NP_001020114.1  NP_001020115.1  NP_001020117.1  


ENSEMBL proteins: 
ENSP00000413883 ENSP00000396527 ENSP00000307188 ENSP00000370219 ENSP00000354710 ENSP00000378740 
ENSP00000378741 


Human Recombinant Proteins 
""Browse Purified and Recombinant Proteins at Millipore
""Browse Human Recombinant Proteins at Sigma-Aldrich
"" Browse R&D Systems for human recombinant proteins
""Enzo Life Sciences proteins for ASL
""HuPro® and/or Recombinant Proteins from Abnova for ASL ""
""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
""Novus Biologicals Protein for ASL  ""
""Browse Sino Biological Recombinant Proteins  ""

1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm TAS282632
About this table

"" ASL for ontologies           About GeneDecksing



Antibodies for ASL: 
""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
""Sigma-Aldrich Antibodies for ASL
"" Browse R&D Systems for Antibodies
""Monoclonal and Polyclonal Antibodies from Abnova (ASL)
""Browse Origene Antibodies ""
""Novus Biologicals Antibodies for ASL
""Browse antibodies at Epitomics

Assays for ASL: 
""Browse Kits and Assays available from Millipore
""Browse ELISAs at Sigma-Aldrich
"" Browse R&D Systems for biochemical assays
""Enzo Life Sciences assays for ASL

Protein Domains/
Families
for ASL gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

  User Feedback
"" ASL for domains           About GeneDecksing

5 InterPro domains/families:
 IPR003031 D_crystallin
 IPR020557 Fumarate_lyase_CS
 IPR008948 L-Aspartase-like
 IPR000362 Fumarate_lyase
 IPR009049 Argininosuccinate_lyase

Graphical View of Domain Structure for InterPro Entry P04424

ProtoNet protein and cluster: P04424

3 Blocks protein families:
IPB000362 Fumarate lyase
IPB003031 Delta crystallin signature
IPB009049 Argininosuccinate lyase


UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
Similarity: Belongs to the lyase 1 family. Argininosuccinate lyase subfamily

Gene Function
for ASL gene

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
About This Section

  User Feedback
Inhib.
RNA:		""Browse for Gene Knock-down Tools from Millipore
""Abnova Chimera RNAi Products for Gene knock-down (ASL)
"" Origene 29mer shRNA kits in GFP-retroviral vector (see all 4): ASL
Origene shRNA RFP (see all 4): ASL
Origene basic RS shRNA (see all 4): ASL

""Applied Biosystems Silencer® siRNAs for ASL
""Sigma-Aldrich siRNA for ASL
Sigma-Aldrich shRNA for ASL
Explore Sigma-Aldrich super-pooled esiRNAs
Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
""Browse iPSC Reprogramming Factors at Sigma-Aldrich
"" Origene GFP tagged cDNA clones in CMV expression vector (see all 4): ASL
Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): ASL
Origene untagged cDNA clones in CMV expression vector (see all 4): ASL
""Browse Sino Biological Human cDNA Clones  ""

UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
Catalytic activity: 2-(N(omega)-L-arginino)succinate = fumarate + L-arginine
Enzyme Number (IUBMB): EC 4.3.2.1 

Genatlas biochemistry entry for ASL:
argininosuccinate lyase,cytosolic,urea cycle

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003824 catalytic activity ----
GO:0004056 argininosuccinate lyase activity IEA--
GO:0016829 lyase activity IEA--
About this table

"" ASL for ontologies           About GeneDecksing

Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele"") (MGI details for Asl):

behavior/neurologicalhomeostasis/metabolismlethality-postnatal

"" ASL for phenotypes           About GeneDecksing

Pathways & Interactions
for ASL gene

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
About This Section

  User Feedback
"" ASL for pathways           About GeneDecksing

3 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  ASL  (Your Favorite Gene powered by Ingenuity)
  ""  Alanine and Aspartate Metabolism
Arginine and Proline Metabolism
Urea Cycle and Metabolism of Amino Groups

3 "" Kegg Pathways  (Kegg details for ASL):
  ""  hsa00250 Alanine, aspartate and glutamate metabolism
hsa00330 Arginine and proline metabolism
hsa01100 Metabolic pathways

UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step
3/3
Pathway: Nitrogen metabolism; urea cycle; L-arginine and fumarate from (N(omega)-L-arginino)succinate: step 1/1

"" Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASL

5/16 Interacting proteins for ASL (ENSP000003071883) via UniProtKB, MINT, and/or STRING (see all 16 ) ""

InteractantInteraction Details
GeneCardExternal ID(s)
ADCENSP000003625403STRING: ENSP00000362540
ADSLENSP000002161943STRING: ENSP00000216194
ARG1ENSP000003494463STRING: ENSP00000349446
ARG2ENSP000002617833STRING: ENSP00000261783
ASS1ENSP000003614713STRING: ENSP00000361471
About this table

4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000050 urea cycle IEA--
GO:0006527 arginine catabolic process TAS282632
GO:0008652 cellular amino acid biosynthetic process IEA--
GO:0042450 arginine biosynthetic process via ornithine IEA--
About this table

"" ASL for ontologies           About GeneDecksing


Drugs & Compounds
for ASL gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

  User Feedback
"" ASL for compounds           About GeneDecksing

"" Enzo Life Sciences drugs & compounds for ASL
""Browse Small Molecules at Sigma-Aldrich

"" Browse Tocris compounds for ASL
10/94 ""Novoseek chemical compound relationships for ASL gene (see all 94 )
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
argininosuccinate 100.00 532 6589607 (6), 8726358 (5), 8586639 (5), 7841190 (5) (see all 100)
citrulline 100.00 61 19217439 (4), 6777600 (3), 16009439 (3), 8586639 (2) (see all 50)
arginine 99.15 87 9228773 (3), 6777600 (3), 16009439 (3), 9164994 (2) (see all 72)
urea 62.58 61 19217439 (3), 885138 (2), 7511585 (2), 2834354 (2) (see all 53)
ornithine 50.68 41 17512708 (3), 9734336 (2), 9228773 (2), 9164994 (2) (see all 35)
asal 47.21 16 2263616 (8), 9365821 (2), 6777600 (2), 8911642 (1) (see all 7)
carbamyl phosphate 27.73 14 2843756 (2), 19092443 (2), 8464164 (1), 18616627 (1) (see all 12)
fumarate 21.56 16 1575702 (2), 11092456 (2), 8695641 (1), 8530047 (1) (see all 14)
delta(1)pyrroline-5-carboxylate 11.07 6 9164994 (3), 9124567 (2), 7573565 (1)
l-arginine 9.47 14 9618389 (1), 9211993 (1), 9195976 (1), 8343133 (1) (see all 14)
About this table


Transcripts
for ASL gene

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
About This Section

  User Feedback
Inhib.
RNA:		""Browse for Gene Knock-down Tools from Millipore
""Abnova Chimera RNAi Products for Gene knock-down (ASL)
""Applied Biosystems Silencer® siRNAs:  NM_000048  NM_001024943  NM_001024944  NM_001024946  
"" Origene 29mer shRNA kits in GFP-retroviral vector (see all 4): ASL
Origene shRNA RFP (see all 4): ASL
Origene basic RS shRNA (see all 4): ASL

""Sigma-Aldrich siRNA for ASL
Sigma-Aldrich shRNA for ASL
Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:""Search SABiosciences for microRNAs that regulate ASL: ""
Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
NM_000048  NM_001024943  NM_001024944  NM_001024946  


Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 4): ASL
Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): ASL
Origene untagged cDNA clones in CMV expression vector (see all 4): ASL
Primers:"" Origene genome-wide validated SYBR primer pairs: ASL
""SABiosciences RT2 qPCR Primer Assay for ASL: PPH21035A ""

REFSEQ mRNAs for ASL gene (4 alternative transcripts): 

NM_000048.3  NM_001024943.1  NM_001024944.1  NM_001024946.1  

Additional cDNA sequence: 

AK300519.1 AK310912.1 AK316334.1 BC008195.1 BC033146.1 CR591306.1 CR591307.1 CR596097.1 
CR596171.1 CR603567.1 CR603715.1 CR607016.1 CR608069.1 CR612547.1 CR613134.1 CR618289.1 
CR618306.1 CR618960.1 CR619001.1 CR619700.1 CR626571.1 J03058.1 M14218.1 M57638.1 
Y00753.1 

24 DOTS entries:

DT.92412452  DT.92434976  DT.100826288  DT.92356286  DT.100826271  DT.100826295  DT.92434973  DT.87014302 
DT.100826282  DT.100826293  DT.100709150  DT.100826292  DT.100826294  DT.100709279  DT.100826286  DT.100826290 
DT.100826281  DT.121127505  DT.121127554  DT.91918974  DT.92434980  DT.100028135  DT.102834213  DT.40213278 

24/206 AceView cDNA sequences (see all 206 ):

BI761711 BM738960 CR618960 BE018013 CN485319 AI750589 BC033146 BM854470 
BU634268 CF127537 CR596097 CR603715 BQ954569 BM826079 BG111928 BM772619 
AA193592 BQ949510 CR596171 BG324715 CR626571 AA651919 BQ652339 CA307983 

"" highest scoring ESTs for ASL:

M14218 AA486740 AA531460 AA533243 AA877899 AI392752 AI650997 AI672822 AI826129 AV692583 

Unigene Cluster for ASL:

Argininosuccinate lyase
Hs.632015  [show with all ESTs]
Unigene Representative Sequence: NM_001024943


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ASL

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d
SP1:                          -                                 
SP2:              -           -                                 
SP3:                          -     -                           
SP4:                                                            
SP5:        -     -     -     -                                 

About this scheme

ECgene alternative splicing isoforms for ASL

13 Ensembl transcripts including schematic representations:
ENST00000419250  ENST00000487982  ENST00000496336  ENST00000464970  ENST00000450043  ENST00000304874  
ENST00000380839  ENST00000485657  ENST00000362000  ENST00000395331  ENST00000395332  ENST00000493708  
ENST00000488343  

Expression
for ASL gene

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
About This Section

  User Feedback

ASL expression in normal and diseased human tissues

"" Applied Biosystems TaqMan ® Gene Expression Assays for ASL

1""  / 2""  / 3""

3 probe-sets matching ASL gene

Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
36528_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M14218 1.00 0.90 0.95 1
204608_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000048 0.60 0.83 0.73 1
204608_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table

"" ASL for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GCCGAGACCA

SOURCE GeneReport for Unigene cluster: Hs.632015

Expression variation in blood from EXPOLDB for ASL

Primers:"" Origene genome-wide validated SYBR primer pairs: ASL ""
""SABiosciences RT2 qPCR Primer Assay for ASL: PPH21035A ""

Orthologs
for ASL gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

  User Feedback
Orthologs for ASL gene from 5/20 species (see all 20 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 ASL1   -- argininosuccinate lyase 88.72(n)
93.53(a)		 479704  XM_536832.2  XP_536832.2 
chimpanzee
(Pan troglodytes)		 ASL1   -- argininosuccinate lyase 99.71(n)
99.57(a)		 463444  XM_519125.2  XP_519125.2 
cow
(Bos taurus)		 ASL1   -- argininosuccinate lyase 90.93(n)
95.68(a)		 512771  NM_001034428.1  NP_001029600.1 
rat
(Rattus norvegicus)		 Asl1   -- argininosuccinate lyase 85.43(n)
90.22(a)		 59085  NM_021577.2  NP_067588.2 
mouse
(Mus musculus)		 Asl1, 5 5 (74.00 cM)5
 argininosuccinate lyase1, 5 86.97(n)1
94.17(a)1		 1099001  NM_133768.31  NP_598529.11 
 AI8450095  AK0109225  (see all 21)
About this table        Species with no ortholog for ASL

ENSEMBL Gene Tree for ASL

Paralogs
for ASL gene

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  User Feedback
Paralogs for ASL gene
ENSG000001699102  

"" ASL for paralogs           About GeneDecksing


Genomic Variants
for ASL gene

(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
About This Section

  User Feedback
10/119 NCBI SNPs in ASL are shown (see all 119 )
(Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 15)
ABGenomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
--
rs6979691,2
C,F,A,H61745322(+) gctcaA/Cgcctg 4 -- ng31""2Minor allele frequency- C:0.37NA WA 52""
--
rs1606441,2
C,F,A65558186(+) atagtC/Tccagc 4 -- ut31""2Minor allele frequency- T:0.12NA 74""
--
rs4653591,2
C,F,A65558164(+) cctggC/Tgtggt 4 -- ut31""3Minor allele frequency- T:0.19MN NA 258""
--
rs4628531,2
C,F,A65558167(+) ggcgtG/Cgtggc 4 -- ut31""2Minor allele frequency- C:0.10NA 74""
--
rs1606431,2
C,F65558222(+) cacttG/Atgccc 4 -- ut31""13Minor allele frequency- A:0.12NS EA NA WA 1036""
--
rs74558021,2
C,H61726566(+) tctttC/Tttttt 4 -- ng51""0--------
--
rs1606421,2
C,F61745217(+) GTAGAC/TGGGAA 4 -- ng31""4Minor allele frequency- T:0.11NA WA 126""
--
rs1606511,2
C,F61725633(-) tggcaC/Tggtcc 1 -- ng51""2Minor allele frequency- T:0.50NA 4""
--
rs74558011,2
C,H61726566(+) tctttC/Ttttct 4 -- ng51""0--------
--
rs11674111,2
C,F61726122(-) CAGGCC/GTTGGG 4 -- ng51""4Minor allele frequency- G:0.47NA EA 164""
About this table

HapMap Linkage Disequilibrium images for ASL (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
      Database of Genomic Variants (DGV) variations for ASL: --

Disorders & Mutations
for ASL gene

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

  User Feedback
"" ASL for disorders           About GeneDecksing

OMIM: 608310   disorders: 207900  

UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424

  • Defects in ASL are the cause of arginosuccinicaciduria (ARGINSA) [MIM:207900]. Arginosuccinicaciduria is an
    • autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver
    enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red,
    convulsions, and episodic unconsciousness

    10/76 ""Novoseek disease relationships for ASL gene (see all 76 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    argininosuccinate lyase deficiency 100.00 96 16808909 (6), 11486903 (5), 18616627 (4), 12384776 (4) (see all 57)
    citrullinemia 24.42 11 18616627 (2), 8843999 (1), 7250970 (1), 20025860 (1) (see all 10)
    hyperammonemia 10.96 8 10353334 (3), 18616627 (1), 17326097 (1), 16009439 (1) (see all 6)
    otc deficiency 8.39 5 18616627 (2), 19217439 (1), 15164414 (1), 10869432 (1)
    disease; liver 8.30 16 18484660 (7), 17669242 (7), 9844057 (2)
    carbamoyl phosphate synthetase i deficiency 5.17 2 18616627 (1), 1720458 (1)
    liver disease parenchymal 4.19 2 5414121 (1), 3674395 (1)
    hyperargininemia 4.03 2 18616627 (1), 15164414 (1)
    prolidase deficiency 4.01 2 19092443 (2)
    inborn urea cycle disorder 3.89 1 11434179 (1)
    About this table

    Genatlas disease: ASL
    argininosuccinicaciduria with neonatal distress and hyperammonemia

    Locus Specific Mutation Databases: ASL
    Human Gene Mutation Database: ASL

    Medical News
    for ASL gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      User Feedback    		   --

    Publications
    for ASL gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/143 PubMed articles for ASL gene (see all 143 ):

    Search for ASL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

      User Feedback
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ASL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

      User Feedback
    Entrez Gene: 435 HGNC: 746 AceView: ASLandRCP9 Ensembl:ENSG00000126522 euGenes: HUgn435
    ECgene: ASL Kegg: 435 H-InvDB: ASL

    Other Databases showing ASL gene

    (According to HUGE)
    About This Section

      User Feedback    		   --

    Specialized Databases showing ASL gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      User Feedback
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASL

    Intellectual Property
    for ASL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section

      User Feedback    		Patent Information for ASL gene: ""
    Search GeneIP for patents involving ASL

    GeneCards and IP: ""
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search


    Services
    for ASL gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section

      User Feedback    		""
    ""
    Products for ASL:
    "" TaqMan ® Gene Expression Assays
    "" TaqMan ® Genotyping Assays
    		 "" Free SNP selection tool

    ""
    "" Millipore Custom Antibody & Bulk Services
    "" Millipore Preclinical / Clinical Development Services
    "" Millipore Immunoassay Services
    "" Millipore Target Screening & Profiling Services

    ""
    "" Predesigned and custom siRNAs for ASL"" Antibodies for ASL
    "" Explore super-pooled esiRNAs"" Browse proteins at Sigma-Aldrich
    "" Lentivirus-delivered shRNAs for ASL"" Browse small molecules at Sigma-Aldrich
    "" "Your Favorite Gene" Pathways"" Browse ELISAs at Sigma-Aldrich
    "" Browse iPSC Reprogramming Factors at Sigma-Aldrichfeedback


     ""  ""
    "" Antibodies  "" Primer Pairs  
    "" Cell Culture Products  "" ELISAs  
    "" Flow Cytometry Kits  "" Protease Activity Assays & Reagents  
    "" Cell Selection/Detection Kits & Reagents  "" ELISA/Assay Development Kits & Reagents  
    "" Multiplex/Array Assay Kits & Reagents  "" ELISpot Kits & Development Modules  
    "" Recombinant & Natural Proteins  

    "" Recombinant Proteins (ASL)
    "" Antibodies (ASL)
    "" Chimera RNAi (ASL)
    "" Custom Service for Mouse Mab
    "" Custom Service for Rabbit Pab from Full-length Protein


    """"""""
    "" Search for Antibodies & Assays

    "" Tagged/untagged cDNA clones
    "" Validated SYBR primer pairs
    "" Purified proteins from HEK293T cells
    "" Western blot validated antibodies
    "" shRNA in GFP-retroviral vector
    "" Custom immunoassay development
    "" Search Tocris compounds for ASL
    "" Regulatory tfbs in ASL upstream (promoter) region
    "" Search Chromatin IP Primers for ASL
    "" DNA Methylation qPCR Primer Assays for ASL
    "" RT2 qPCR Primer Assay for ASL
    "" Search GNC Networks for ASL
    "" Search for microRNAs that regulate ASL
    """"""""
    "" Assays/Drugs/Proteins for ASL
    "" Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
    "" Novus Tissue Slides
    "" Antibodies for ASL
    "" Proteins for ASL
    "" Browse antibodies at Epitomics
    "" Browse Sino Biological Proteins and Antibodies
    "" Browse Sino Biological cDNA Clones
    "" Antibodies/Proteins Production Services
    "" Rabbit Monoclonal Antibody Platform
    "" Bulk Purchasing
      User Feedback        

    GeneCards Homepage - Last full update: 21 May 2010 - Incremental updates: 24 May 2010 , 20 Jun 2010

    View Random Gene

    Category
    acyl-CoA synthetase family member 3
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2010 , Weizmann Institute of Science. All Rights Reserved.
    ASL gene at Home site.
    hostname: server5.xennexinc.com db build: 72 index build: 72d solr: 1.4