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anti-GAMT antibody :: Rabbit guanidinoacetate N-methyltransferase Polyclonal Antibody

Scan QR to view Datasheet Catalog #    MBS711698 anti-GAMT antibody
Unit / Price
0.05 mL  /  $230 +1 FREE 8GB USB
0.15 mL  /  $500 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

guanidinoacetate N-methyltransferase (GAMT), Polyclonal Antibody

★Popular Item★
 Also Known As   

Rabbit anti-human guanidinoacetate N-methyltransferase polyclonal Antibody

 Product Synonym Names    guanidinoacetate N-methyltransferase; GAMT; PIG2; TP53I2
 Product Gene Name   

anti-GAMT antibody

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 OMIM    gene 612736
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 Clonality    Polyclonal
 Isotype    IgG
 Host    Rabbit
 Species Reactivity    Human, Mouse, Rat, Zebrafish
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 Purity/Purification    Antigen Affinity Purified
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 Immunogen    Human GAMT
 Storage Buffer    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20 degree C, Avoid freeze / thaw cycles.
 Santa Cruz Alternative    Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-132702 / sc-101964
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of anti-GAMT antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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 Applications Tested/Suitable for anti-GAMT antibody   

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

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NCBI/Uniprot data below describe general gene information for GAMT. It may not necessarily be applicable to this product.
 NCBI GI #    6014689
 NCBI GeneID    2593
 NCBI Accession #    AAF01461.1 [Other Products]
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 UniProt Secondary Accession #    Q53Y34; Q8WVJ1; A8K0A0 [Other Products]
 UniProt Related Accession #    Q14353 [Other Products]
 Molecular Weight    29,377 Da [Similar Products]
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 NCBI Official Full Name    guanidinoacetate N-methyltransferase
 NCBI Official Synonym Full Names    guanidinoacetate N-methyltransferase
 NCBI Official Symbol    GAMT [Similar Products]
 NCBI Official Synonym Symbols   
PIG2; CCDS2; TP53I2; HEL-S-20
[Similar Products]
 NCBI Protein Information    guanidinoacetate N-methyltransferase; epididymis secretory protein Li 20
 UniProt Protein Name    Guanidinoacetate N-methyltransferase
 Protein Family    Guanidinoacetate N-methyltransferase
 UniProt Gene Name    GAMT [Similar Products]
 UniProt Entry Name    GAMT_HUMAN
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 NCBI 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. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
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 UniProt Comments for GAMT    GAMT: Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency). 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. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - glycine, serine and threonine; EC 2.1.1.2; Methyltransferase; Contractile; Amino Acid Metabolism - arginine and proline

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cytosol

Molecular Function: methyltransferase activity; guanidinoacetate N-methyltransferase activity

Biological Process: methylation; creatine biosynthetic process; organ morphogenesis; muscle contraction; regulation of multicellular organism growth; spermatogenesis; creatine metabolic process

Disease: Cerebral Creatine Deficiency Syndrome 2
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 Research Articles on GAMT    1. Two novel heterozygous variants with sequence deletion and sequence insertion in the GAMT gene have been identified in newborns with guanidinoacetate methyltransferase deficiency.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with anti-GAMT antibodyPathways associated with anti-GAMT antibody
 Reference Product  PubMed Publications
 GATM antibody  >4 publications with GAMT and GATM
 CKB antibody  >1 publications with GAMT and CKB
 Products by Pathway  Pathway Diagram
 Arginine And Proline Metabolism Pathway antibodies  Arginine And Proline Metabolism Pathway Diagram
 Arginine And Proline Metabolism Pathway antibodies  Arginine And Proline Metabolism Pathway Diagram
 Creatine Metabolism Pathway antibodies  Creatine Metabolism Pathway Diagram
 Creatine Pathway antibodies  Creatine Pathway Diagram
 Creatine Pathway antibodies  Creatine Pathway Diagram
 Glycine, Serine And Threonine Metabolism Pathway antibodies  Glycine, Serine And Threonine Metabolism Pathway Diagram
 Glycine, Serine And Threonine Metabolism Pathway antibodies  Glycine, Serine And Threonine Metabolism Pathway Diagram
 Metabolic Pathways antibodies  Metabolic Pathways Diagram
 Metabolism Pathway antibodies  Metabolism Pathway Diagram
 Metabolism Of Amino Acids And Derivatives Pathway antibodies  Metabolism Of Amino Acids And Derivatives Pathway Diagram
Diseases associated with anti-GAMT antibodyOrgans/Tissues associated with anti-GAMT antibody
 Disease Name  Pubmed Publications
 Nervous System Diseases Antibodies  >53 publications with GAMT and Nervous System Diseases
 Brain Diseases Antibodies  >42 publications with GAMT and Brain Diseases
 Guanidinoacetate methyltransferase deficiency Antibodies  >34 publications with GAMT and Guanidinoacetate methyltransferase deficiency
 Seizures Antibodies  >23 publications with GAMT and Seizures
 Intellectual Disability Antibodies  >21 publications with GAMT and Intellectual Disability
 Amino Acid Metabolism, Inborn Errors Antibodies  >17 publications with GAMT and Amino Acid Metabolism, Inborn Errors
 Heart Diseases Antibodies  >6 publications with GAMT and Heart Diseases
 Liver Diseases Antibodies  >6 publications with GAMT and Liver Diseases
 Muscular Diseases Antibodies  >5 publications with GAMT and Muscular Diseases
 Learning Disorders Antibodies  >5 publications with GAMT and Learning Disorders
 Organ/Tissue Name  Pubmed Publications
 Brain Antibodies  >80 publications with GAMT and Brain
 Blood Antibodies  >57 publications with GAMT and Blood
 Liver Antibodies  >43 publications with GAMT and Liver
 Muscle Antibodies  >25 publications with GAMT and Muscle
 Heart Antibodies  >15 publications with GAMT and Heart
 Kidney Antibodies  >14 publications with GAMT and Kidney
 Pancreas Antibodies  >8 publications with GAMT and Pancreas
 Embryonic Tissue Antibodies  >5 publications with GAMT and Embryonic Tissue
 Testis Antibodies  >3 publications with GAMT and Testis
 Eye Antibodies  >3 publications with GAMT and Eye
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