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GATM Gene

protein-coding   GIFtS: 59

GC15M043440
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
AGAT 1, 2, 3, 5
AT 2, 3
EC 2.1.4.1 3
Transamidinase 3
transamidinase 2
Descriptions
L-arginine:glycine amidinotransferase 2, 3
glycine amidinotransferase (L-arginine:glycine
amidinotransferase) 2
External Ids
HGNC: 41751
Entrez Gene: 26282
UniProtKB: P504403
Ensembl: ENSG000001717667
Search outside databases for aliases for GATM gene

Previous GC identifers: GC15M041211 GC15M038700 GC15M043232 GC15M043369

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for GATM:
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme
is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from
L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine.
Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of
creatine synthesis characterized by mental retardation, language impairment, and behavioral
disorders. [provided by RefSeq]

Gene Wiki entry for GATM
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the GATM gene  

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q15.1

GATM 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 15         GeneLoc Exon Structure

GeneLoc location for GC15M043440:     (about GC identifiers)

Start:
43,440,614 bp from pter
End:
43,458,272 bp from pter
Size:
17,659 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000015.8  NT_010194.16  
(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 Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GATM_HUMAN, P50440 (See protein sequence)
Recommended Name: Glycine amidinotransferase, mitochondrial precursor  
Size: 423 amino acids; 48455 Da
Subunit: Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted
towards the side of the monomer
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side
(Potential). Cytoplasm. Note=The mitochondrial form is found in the intermembrane space probably
attached to the outer side of the inner membrane
PDB structures from and Proteopedia :
1JDW (3D)    1JDX (3D)    2JDW (3D)    2JDX (3D)    3JDW (3D)    4JDW (3D)    5JDW (3D)    6JDW (3D)    
7JDW (3D)    8JDW (3D)    9JDW (3D)    
Secondary accessions: Q53EQ4
Alternative splicing: 2 isoforms:  P50440-1   P50440-2   

REFSEQ proteins: NP_001473.1  

ENSEMBL proteins: 
ENSP00000303263 ENSP00000379895 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for 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
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (GATM)
Human Recombinant Proteins from Abnova (GATM)
              OriGene Purified Recombinant Human Protein: GATM 

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
GO:0005739 mitochondrion IEA--
GO:0005743 mitochondrial inner membrane IEA--
GO:0005758 mitochondrial intermembrane space IDA9218780
GO:0016020 membrane IEA--
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Antibodies for GATM: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for GATM
Browse R&D Systems for Antibodies
Antibodies from Abcam (GATM), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (GATM)
Novus Biologicals Antibodies for GATM

Assays for GATM: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR003198 Amidino_trans


   GeneDecks  GATM for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P50440

ProtoNet protein and cluster: P50440

1 Blocks protein family: IPB003198 Amidinotransferase

UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
Domain: One chain folds into a compact single domain composed of repeating units, five
beta-beta-alpha-beta modules, which surround the central active site
Similarity: Belongs to the amidinotransferase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (GATM)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001482

              Applied Biosystems Silencer® siRNAs for GATM

              Sigma-Aldrich siRNA and siRNA Panels for GATM  
                     Sigma-Aldrich shRNA for GATM  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for GATM
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001482
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001482
                                 untagged cDNA clone in CMV expression vector: NM_001482 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001482

UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
Catalytic activity: L-arginine + glycine = L-ornithine + guanidinoacetate
Enzyme Number (IUBMB): EC 2.1.4.1 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0015068 glycine amidinotransferase activity IDA9218780
GO:0016740 transferase activity IEA--
GO:0016813 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
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 Apr 2009 via Entrez Gene.)
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1 Invitrogen iPath™ Online BioAtlas - Pathway for GATM (Maps provided by GeneGo):
 Arginine metabolism

   GeneDecks  GATM for the pathways selected above  
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for  GATM  (Your Favorite Gene powered by Ingenuity) 
 Glycine, Serine and Threonine Metabolism
 Urea Cycle and Metabolism of Amino Groups
 Arginine and Proline Metabolism

   GeneDecks  GATM for the pathways selected above  
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3 Kegg Pathways  (Kegg details for GATM):
 hsa00220 Urea cycle and metabolism of amino groups
 hsa00260 Glycine, serine and threonine metabolism
 hsa00330 Arginine and proline metabolism

   GeneDecks  GATM for the pathways selected above  
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UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and
glycine: step 1/2


5/58 Interacting proteins for GATM (ENSP000003032633) via UniProtKB, MINT, and/or STRING (see all 58 )

InteractantInteraction Details
GeneCardExternal ID(s)
GAMTENSP000002522883STRING (score=.99)
AGXTENSP000003026203STRING (score=.919)
AGXT2ENSP000002314203STRING (score=.899)
ALAS1ENSP000003092593STRING (score=.899)
ALAS2ENSP000003323693STRING (score=.899)
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5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0006601 creatine biosynthetic process IDA9218780
GO:0006979 response to oxidative stress IEA--
GO:0007584 response to nutrient IEA--
GO:0009790 embryonic development IEA--
GO:0010033 response to organic substance IEA--
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(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)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for GATM
4 Novoseek chemical compound relationships for GATM gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
guanidinoacetate 96.94 67 12324495 (6), 17928413 (3), 12597058 (2), 12701824 (2) (see all 23)
ornithine 56.53 4 17928413 (1), 9915841 (1)
atp 2.31 2 8720293 (1), 16343079 (1)
nitric oxide 0.00 2 15465778 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) 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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (GATM)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001482

              Sigma-Aldrich siRNA and siRNA Panels for GATM  
                     Sigma-Aldrich shRNA for GATM  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001482  

REFSEQ mRNAs for GATM gene: 

NM_001482.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001482  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001482
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001482
                                 untagged cDNA clone in CMV expression vector: NM_001482 

Additional cDNA sequence: 

AK056979.1 AK098393.1 AK223585.1 AK294995.1 AK298350.1 BC004141.2 CR601436.1 CR622786.1 
S68805.1 X65706.1 

20 DOTS entries:

DT.101974230  DT.40293240  DT.451607  DT.100807698  DT.95196170  DT.100807689  DT.100807693  DT.100658771 
DT.92453964  DT.91657024  DT.92453949  DT.102843044  DT.92453963  DT.95196169  DT.100682772  DT.100807691 
DT.92453959  DT.95196173  DT.95358893  DT.100716325 

24/368 AceView cDNA sequences (see all 368 ):

BP348504 BQ934423 BM826468 AI241106 BM663495 AV649899 BM766875 AV654903 
BG428961 CR622786 AV646315 AV648741 CB055285 BM853138 F04111 AV654480 
AV649811 AV662110 AV649851 AI985520 BG719271 F07852 AV654085 AV662107 

highest scoring ESTs for GATM:

S68805 AA442452 AI223328 AK098055 AK098393 AU099726 AU118598 AV645621 AV648741 AV648826 

Unigene Cluster for GATM:

Glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Hs.75335  [show with all ESTs]
Unigene Representative Sequence: NM_001482


GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GATM (see all 8 )

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b
SP1:                    -     -           -     -                                                                 -               
SP2:                                      -     -                                                                 -               
SP3:                                                                          -                                                   
SP4:                                                                                                                              
SP5:                    -     -     -     -     -                                                                                 

About this scheme

ECgene alternative splicing isoforms for GATM

2 Ensembl transcripts including schematic representations:
ENST00000305575  ENST00000396659  
(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 219 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 )
About This Section

GATM expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for GATM

1 / 2 / 3

6 probe-sets matching GATM gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
36596_r_at2, 3 U95-A 1 1.00 1.00 1.00 1.07 S68805 1.00 1.00 1.00 1
36595_s_at2, 3 U95-A 1 1.00 1.00 1.00 0.94 S68805 1.00 1.00 1.00 1

216733_s_at2, 3 U133-A 1 1.00 1.00 -- -- X86401 0.60 1.00 0.82 1

203178_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001482 0.60 1.00 0.82 1

216733_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

203178_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  GATM for binary patterns associated with the probe-sets selected above  
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.75335

Expression variation in blood from EXPOLDB for GATM

UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
Tissue specificity: Kidney

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for GATM gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
GATM1   -- glycine amidinotransferase (L-arginine:glycine amidinotransferase) 93.85(n)
96.45(a)
414733  XM_544663.2  XP_544663.2 
chimpanzee
(Pan troglodytes)
GATM1   -- glycine amidinotransferase (L-arginine:glycine amidinotransferase) 99.61(n)
99.76(a)
453401  XM_001163621.1  XP_001163621.1 
cow
(Bos taurus)
GATM1   -- glycine amidinotransferase (L-arginine:glycine amidinotransferase) 92.43(n)
94.09(a)
414732  NM_001045878.1  NP_001039343.1 
rat
(Rattus norvegicus)
Gatm1   -- glycine amidinotransferase (L-arginine:glycine amidinotransferase) 89.51(n)
92.59(a)
81660  XM_575224.1  XP_575224.1 
mouse
(Mus musculus)
Gatm1, 5 2 (69.00 cM)5
glycine amidinotransferase (L-arginine:glycine amidinotransferase)1, 5 90.86(n)1
95.74(a)1
670921  NM_025961.31  NP_080237.11 
 AI3147895  AI8446265  (see all 19)
About this table        Species with no ortholog for GATM

ENSEMBL Gene Tree for GATM
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/118 NCBI SNPs in GATM are shown (see all 118 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 81)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 15 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs10495081,2
A,C,F,H,O43440884(+) GAGAGG/AAAAAG 1 -- ut31 trp38Minor allele frequency- A:0.45MN NA EU EA WA 744
rs71646021,2
A,C,F,H43458617(+) GCCATG/ATGCCC 1 -- ng31 tfbs38Minor allele frequency- A:0.45EU EA WA MN 1144
rs12887751,2
C,F,H,O43448970(+) CCTCCA/TTGCTT 1 Q/H mis1 ese317Minor allele frequency- T:0.28MN NA EA EU WA 2854
rs10495181,2
A,C,F,H43440659(-) GATACT/CGTATG 1 -- ut317Minor allele frequency- C:0.25EU EA WA NA 552
rs43950201,2
A,C,F,H43440181(+) ATCCAC/AACAAC 1 -- ng516Minor allele frequency- A:0.39EA WA NA 414
--
rs80245501,2
A,C43457973(+) GCGGAA/CTGTTC 1 -- ut510--------
--
rs45347821,2
A,C43440225(+) TGTAGA/GACTAA 1 -- ng510--------
rs10495031,2
C,F43440999(-) CATCAA/GAGTGA 1 -- ut314Minor allele frequency- G:0.29MN NA 326
--
rs46256701,2
A,C43440218(+) GTCCAC/TGTGTA 1 -- ng510--------
rs176186371,2
F,H43440686(+) CACATC/TGCATT 1 -- ut317Minor allele frequency- T:0.01NA EU EA WA 554
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HapMap Linkage Disequilibrium images for GATM (up to first 250kb)

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

OMIM: 602360   disorders: 612718  

UniProtKB/Swiss-Prot: GATM_HUMAN, P50440

  • Defects in GATM are the cause of L-arginine:glycine amidinotransferase deficiency (AGAT
    deficiency) [MIM:602360]. AGAT deficiency is a defect in creatine metabolism leading to mental
    retardation
  • 3 Novoseek disease relationships for GATM gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 66.76 5 12468279 (1), 12597058 (1), 11555793 (1), 16769397 (1)
    language disorders 54.65 1 12597058 (1)
    acute pancreatitis 21.19 1 2329743 (1)
    About this table

    GeneTests: GATM
    Creatine Deficiency Syndromes

    Human Gene Mutation Database: GATM
    Human Genome Epidemiology Navigator: GATM (1 document)

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

      --

    (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

    10/54 PubMed articles for GATM gene (see all 54 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 2628 HGNC: 4175 AceView: GATM Ensembl:ENSG00000171766 euGenes: HUgn2628
    ECgene: GATM H-InvDB: GATM
    (According to HUGE)
    About This Section

      --
    (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

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=GATM
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

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



    Products for GATM:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for GATM Antibodies for GATM
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for GATM Browse small molecules at Sigma-Aldrich
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     shRNA in GFP-retroviral vector
     Search Tocris compounds for GATM




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