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GAMT Gene

protein-coding   GIFtS: 64

GC19M001171
guanidinoacetate N-methyltransferase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
guanidinoacetate N-methyltransferase1 2
TP53I21 2
PIG21 2
EC 2.1.1.23

External Ids:    HGNC: 41361   Entrez Gene: 25932   Ensembl: ENSG000001300057   UniProtKB: Q143533   

Export aliases for GAMT gene to outside databases

Previous GC identifers: GC19M001454 GC19M001466 GC19M001337 GC19M001348 GC19M001397


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

Entrez Gene summary for GAMT:
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using
S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and
muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected
individuals. Two transcript variants encoding different isoforms have been described for this gene. (provided by
RefSeq)

Gene Wiki entry for GAMT

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GAMT gene promoter:
         YY1   Pax-6   E2F-5   E2F   E2F-1   E2F-2   E2F-4   E2F-3a   CUTL1   c-Rel   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GAMT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M001171:  view genomic region     (about GC identifiers)

Start:
1,171,941 bp from pter
End:
1,176,384 bp from pter
Size:
4,444 bases
Orientation:
minus strand

1 alternative location:
Chr19- 1,397,089-1,401,552     
RefSeq DNA sequence:
NC_000019.9  NT_011255.14  

(According to 1UniProtKB, neXtProt, 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, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353 (See protein sequence)
Recommended Name: Guanidinoacetate N-methyltransferase  
Size: 236 amino acids; 26318 Da
Subunit: Monomer (By similarity)
PDB structures from and Proteopedia :
3ORH (3D)    
Secondary accessions: Q53Y34 Q8WVJ1

Explore the universe of human proteins at neXtProt for GAMT: NX_Q14353 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_000147.1  NP_620279.1  


    ENSEMBL proteins: 
    ENSP00000252288 ENSP00000403536 ENSP00000414520 


    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: GAMT
    GenScript Custom Purified and Recombinant Proteins Services for GAMT 
    Novus Biologicals Proteins for GAMT
    Novus Biologicals Lysate for GAMT
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for GAMT

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829 cytosol EXP8651275
    About this table

    GAMT for ontologies           About GeneDecksing



    Antibodies for GAMT: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for GAMT
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for GAMT 
    Novus Biologicals Antibodies for GAMT
    Browse antibodies at Epitomics

    Assays for GAMT: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GAMT 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for GAMT 


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

    GAMT for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR016550 GuanidinoAc_N-MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q14353

    ProtoNet protein and cluster: Q14353

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Similarity: Belongs to the RMT2 methyltransferase family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Catalytic activity: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine
    Enzyme Number (IUBMB): EC 2.1.1.2 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for GAMT
    Sigma-Aldrich shRNA for GAMT
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): GAMT
    OriGene shRNA RFP (see all 2): GAMT
    OriGene basic RS shRNA (see all 2): GAMT
    OriGene siRNA (see all 2): GAMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GAMT 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GAMT 
    Search SABiosciences for Assays for microRNAs that regulate GAMT

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    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 2): GAMT
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): GAMT
    OriGene untagged cDNA clones in CMV expression vector (see all 3): GAMT
    OriGene 3'-UTR clone (see all 2): GAMT 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): GAMT 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for GAMT 

    Genatlas biochemistry entry for GAMT:
    guanidinoacetate N-methyltransferase,expressed in liver,catalyzing the synthesis of creatine from guanidinoaacetate and
    S-adenosylmethionine

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168 methyltransferase activity EXP8651275
    GO:0016740 transferase activity IEA--
    GO:0030731 guanidinoacetate N-methyltransferase activity IMP8651275
    About this table

    GAMT for ontologies           About GeneDecksing

    Animal Models: 9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gamt):

    adipose tissuebehavior/neurologicalcellularendocrine/exocrine glandgrowth/size
    homeostasis/metabolismlethality-postnatalrenal/urinary systemreproductive system

    GAMT for phenotypes           About GeneDecksing


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


    GAMT for pathways           About GeneDecksing

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

    3 Kegg Pathways  (Kegg details for GAMT):
        hsa00260 Glycine, serine and threonine metabolism
    hsa00330 Arginine and proline metabolism
    hsa01100 Metabolic pathways

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2

        SABiosciences Pathway-Focused PCR Arrays including GAMT: PAHS-069A PAHS-094A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GAMT
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GAMT

    5 Interacting proteins for GAMT (ENSP000002522883) via UniProtKB, MINT, and/or STRING

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CKBENSP000002991983STRING: ENSP00000299198
    CKMENSP000002214763STRING: ENSP00000221476
    CKMT2ENSP000002540353STRING: ENSP00000254035
    GATMENSP000003032633STRING: ENSP00000303263
    --ENSP000003384963STRING: ENSP00000338496
    About this table

    5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600 creatine metabolic process EXP10893433
    GO:0006601 creatine biosynthetic process IDA8651275
    GO:0006936 muscle contraction TAS8547310
    GO:0007283 spermatogenesis ----
    GO:0009887 organ morphogenesis ----
    About this table

    GAMT for ontologies           About GeneDecksing



    (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

    GAMT for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GAMT
    9 Novoseek chemical compound relationships for GAMT gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanidinoacetate 99 153 12597058 (4), 12324495 (4), 12701824 (4), 15028668 (3) (see all 65)
    guanidino 83.1 3 15028668 (1), 9322805 (1)
    creatinine 77.4 143 12597058 (3), 15028668 (3), 16941429 (3), 9322805 (3) (see all 53)
    ornithine 64.3 3 11749046 (2), 12701824 (1)
    phosphocreatine 64.3 2 15234333 (2)
    arginine 39 3 11749046 (2), 12701824 (1)
    s-adenosylmethionine 23.6 2 16471489 (1)
    fatty acid 0.759 4 19917247 (1), 19917243 (1), 20404548 (1)
    hydrogen 0 1 19733262 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for GAMT
    Sigma-Aldrich shRNA for GAMT
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): GAMT
    OriGene shRNA RFP (see all 2): GAMT
    OriGene basic RS shRNA (see all 2): GAMT
    OriGene siRNA (see all 2): GAMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GAMT 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GAMT 
    Search SABiosciences for Assays for microRNAs that regulate GAMT
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): GAMT
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): GAMT
    OriGene untagged cDNA clones in CMV expression vector (see all 3): GAMT
    OriGene 3'-UTR Clone (see all 2): GAMT 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): GAMT 
    Primers: OriGene genome-wide validated SYBR primer pairs: GAMT
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GAMT: PPH10203A

    REFSEQ mRNAs for GAMT gene (2 alternative transcripts): 

    NM_000156.4  NM_138924.1  

    Additional cDNA sequence: 

    AF086508.1 AK289465.1 AK297487.1 BC016760.2 BC017936.1 BT007034.1 CR592539.1 CR598497.1 
    CR622940.1 Z49878.1 

    9 DOTS entries:

    DT.415415  DT.100776274  DT.91699555  DT.86847682  DT.121495003  DT.97792868  DT.121495080  DT.100811293 
    DT.91911056 

    24/207 AceView cDNA sequences (see all 207):

    AW328135 CA438906 BM560778 BM703031 F28468 BI821248 CK818879 BM552032 
    CR598497 F26602 CA412771 BQ232963 AL547635 F19478 AA722440 BQ677258 
    BI116027 BX438620 CB242422 BQ652009 BM917186 F24913 BU622961 BM547826 

    highest scoring ESTs for GAMT:

    Z49878 AV695277 AW328135 BC016760 BC017936 BE267646 BE396733 BE397304 BE515146 BE786126 

    Unigene Cluster for GAMT:

    Guanidinoacetate N-methyltransferase
    Hs.81131  [show with all ESTs]
    Unigene Representative Sequence: BM928125


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GAMT

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
    SP1:                                      -     -         
    SP2:                                                      
    SP3:                                                      

    About this scheme

    ECgene alternative splicing isoforms for GAMT
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252288(uc002lsj.2) ENST00000447102(uc002lsk.2) ENST00000455182


    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    GAMT expression in normal and diseased human tissues

    1  / 2  / 3

    7 probe-sets matching GAMT gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37602_at2, 3 U95-A 1 0.81 1.00 1.00 1.00 Z49878 1.00 1.00 1.00 1
    205354_at2, 3 U133-A 1 0.91 1.00 -- -- NM_000156 0.60 1.00 0.82 1
    233358_at*2, 3 U133-B 43 0.27 0.02 -- -- AK024373 0.20 0.01 0.14 3
    1552474_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    205354_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    1552473_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    233358_at*2 U133Plus2 43 0.27 0.02 -- -- -- -- -- -- --
    About this table

    GAMT for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    GAMT gene expression
    GAMT gene electronic northern expression
    GAMT gene sage expression
    About these images

    CGAP SAGE TAG: CCCTCCTCCG

    SOURCE GeneReport for Unigene cluster: Hs.81131

    Expression variation in blood from EXPOLDB for GAMT

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Tissue specificity: Expressed in liver

    Primers: OriGene genome-wide validated SYBR primer pairs: GAMT
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GAMT: PPH10203A
        SABiosciences Expression via Pathway-Focused PCR Arrays including GAMT: PAHS-069A PAHS-094A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for GAMT gene from 5/11 species (see all 11)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GAMT1   -- guanidinoacetate N-methyltransferase 82.2(n)
    82.04(a)
    485085  XM_542203.2  XP_542203.2 
    chimpanzee
    (Pan troglodytes)
    GAMT1   -- guanidinoacetate N-methyltransferase 99.51(n)
    99.03(a)
    749982  XM_001172605.1  XP_001172605.1 
    cow
    (Bos taurus)
    GAMT1   -- guanidinoacetate N-methyltransferase 89.08(n)
    89.36(a)
    515270  NM_001038544.1  NP_001033633.1 
    rat
    (Rattus norvegicus)
    Gamt1   -- guanidinoacetate N-methyltransferase 82.55(n)
    86.81(a)
    25257  NM_012793.1  NP_036925.1 
    mouse
    (Mus musculus)
    Gamt1 , 5 10 (39.72 cM)5
    guanidinoacetate methyltransferase1, 5 84.82(n)1
    88.09(a)1
    144311  NM_010255.11  NP_034385.11 
     AA5714025  AA8817655  (see all 15)
    About this table        Species with no ortholog for GAMT

    ENSEMBL Gene Tree for GAMT (if available)

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



    (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, Resequencing Primers from Qiagen)
    About This Section

    10/85 NCBI SNPs in GAMT are shown (see all 85)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs2668061,2
    C,A,1400766(+) GGCCCA/GACCCC 2 -- int18Minor allele frequency- G:0.16MN NA EA WA 354
    rs2668071,2
    C,F,1400679(+) TCCCCA/GGTGGG 2 -- int111Minor allele frequency- G:0.22EA NA MN WA 438
    rs2668081,2
    C,F,1399723(+) CCCCCA/CACCCC 2 -- int16Minor allele frequency- C:0.07NS EA NA 460
    rs2668091,2
    C,1397558(+) CTGGCG/ACCCAC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs2668101,2
    C,F,1397082(+) CAGTCG/ACACGC 1 -- ng312Minor allele frequency- A:0.01MN WA 186
    rs2668111,2
    C,F,1397047(+) TGGGCG/CGGAGG 1 -- ng313Minor allele frequency- C:0.06MN WA 236
    rs2668121,2
    C,F,1396970(+) GTGGGG/AGGGGC 1 -- ng313Minor allele frequency- A:0.06MN WA 236
    rs2668131,2
    C,A,H,1396952(+) TCTGCT/CATGGG 1 -- ng314Minor allele frequency- C:0.46MN EA WA NA 324
    rs2668141,2
    C,F,1396602(+) GACCCG/AGGATG 1 -- ng314Minor allele frequency- A:0.08EA NA WA 62
    rs5766991,2
    --1403115(+) cgattC/Ttccta 2 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for GAMT (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for GAMT
         3 CNVs: 7191 4066 5066

    QIAGEN SeqTarget long-range PCR primers for resequencing GAMT 

    (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, and/or TGDB.)
    About This Section

    GAMT for disorders           About GeneDecksing

    OMIM: 601240   disorders: 612736  

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353

  • Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736].
  • GAMT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental
    retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances,
    severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and
    body fluids

    5 Novoseek disease relationships for GAMT gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 75.5 5 12597058 (1), 17336114 (1), 15108290 (1), 16054853 (1) (see all 5)
    language delay 74.6 2 17186272 (1), 19388150 (1)
    movement disorders 72.9 7 8547310 (1), 12597058 (1), 12701824 (1), 12889668 (1) (see all 7)
    developmental delay 65.6 2 19027335 (1), 11412830 (1)
    epilepsy 63.3 10 12597058 (2), 19388150 (2), 17336114 (1), 15108290 (1) (see all 8)
    About this table

    Genatlas disease: GAMT
    muscular hypotonia,severe,progressive extrapyramidal movement disorder,extremely low excretion of creatine and
    accumulation of guanidinoacetate in brain

    GeneTests: GAMT
    Creatine Deficiency Syndromes

    Locus Specific Mutation Databases (LSDB): GAMT
    Human Gene Mutation Database (HGMD): GAMT
    Human Genome Epidemiology (HuGE) Navigator: GAMT (2 documents)

    Export disorders and mutations for GAMT gene to outside databases

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

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

    10/84 PubMed articles for GAMT gene, integrated from 7 sources (see all 84):
    (articles sorted by number of sources associating them with GAMT)
    1. Cloning and sequence analysis of human guanidinoacetate N- methyltransferase cDNA. (PubMed id 8547310)1, 2, 3, 7 Isbrandt D. and von Figura K. (1995)
    2. The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice. (PubMed id 9325156)1, 2, 7 Jenne D.E.... Zimmer M. (1997)
    3. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. (PubMed id 8651275)1, 2, 7 Stoeckler S.... von Figura K. (1996)
    4. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. (PubMed id 9570966)1, 3, 7 Chae Y.J....Lee H. (1998)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. (PubMed id 16899382)1, 7 Almeida L.S....Salomons G.S. (2006)
    8. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. (PubMed id 19027335)1, 7 Dhar S.U....Wong L.J. (2009)
    9. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. (PubMed id 19288536)1, 7 Engelke U.F....Wevers R.A. (2009)
    10. A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. (PubMed id 17336114)1, 7 Almeida L.S....Salomons G.S. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2593 HGNC: 4136 AceView: GAMT Ensembl:ENSG00000130005 euGenes: HUgn2593
    ECgene: GAMT Kegg: 2593 H-InvDB: GAMT

    (According to HUGE)
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