product summary
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company name :
MyBioSource
product type :
antibody
product name :
Rabbit anti-human guanidinoacetate N-methyltransferase polyclonal Antibody
catalog :
MBS711698
quantity :
0.05 mL
price :
375 USD
clonality :
polyclonal
host :
rabbit
conjugate :
nonconjugated
reactivity :
human, mouse, rat, zebrafish
application :
western blot, ELISA, immunohistochemistry, enzyme immunoassay
more info or order :
MyBioSource product webpage
product information
catalog number :
MBS711698
products type :
Antibody
products full name :
Rabbit anti-human guanidinoacetate N-methyltransferase polyclonal Antibody
products short name :
guanidinoacetate N-methyltransferase
products name syn :
guanidinoacetate N-methyltransferase; GAMT; PIG2; TP53I2
other names :
guanidinoacetate N-methyltransferase; Guanidinoacetate N-methyltransferase; guanidinoacetate N-methyltransferase; epididymis secretory protein Li 20; guanidinoacetate N-methyltransferase
other gene names :
GAMT; GAMT; PIG2; CCDS2; TP53I2; HEL-S-20
uniprot entry name :
GAMT_HUMAN
clonality :
Polyclonal
isotype :
IgG
host :
Rabbit
reactivity :
Human, Mouse, Rat, Zebrafish
sequence length :
236
purity :
Antigen Affinity Purified
tested application :
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
other info1 :
Immunogen: Human GAMT
other info2 :
Storage Buffer: PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20 degree C, Avoid freeze / thaw cycles.
ncbi gi num :
6014689
ncbi acc num :
AAF01461.1
ncbi mol weight :
29,377 Da
ncbi pathways :
Arginine And Proline Metabolism Pathway (82957); Arginine And Proline Metabolism Pathway (323); Creatine Metabolism Pathway (106192); Creatine Pathway (413359); Creatine Pathway (468234); Glycine, Serine And Threonine Metabolism Pathway (82949); Glycine, Serine And Threonine Metabolism Pathway (313); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169)
ncbi summary :
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]
uniprot summary :
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
size1 :
0.05 mL
price1 :
375 USD
size2 :
0.15 mL
price2 :
715
more info or order :
MyBioSource product webpage
company information
MyBioSource
P.O. Box 153308
San Diego, CA 92195-3308
sales@mybiosource.com
https://www.mybiosource.com
1-888-627-0165
headquarters: USA
MyBioSource, LLC was orginally founded in Vancouver by three enthusiastic scientists who are passionate about providing the world with the best reagents available. Together, they form a company with a big vision known as MyBioSource. MyBioSource is now located in San Diego, California, USA.

"MyBioSource's number 1 vision is to be the world's number 1 quality reagents provider."

Our goal is to provide researchers, scientists and customers alike with a one-stop-shop for all of their reagents needs, whether it is monoclonal antibody, polyclonal antibody, recombinant protein, peptide, etc...

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Please spend a few minutes to browse our online catalogs and see the wide range of products available. We ship our products through our shipping/distribution facility in San Diego, California, USA.

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