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Product Name Anti-GAMT/PE-Cy3 Chinese Name PE-Cy3标记的胍基乙酸N甲基转移酶抗体 Alias GAMT; GAMT_HUMAN; Guanidinoacetate N methyltransferase; Guanidinoacetate N-methyltransferase; PIG2; TP53I2. Research Area Tumour Cell biology Neurobiology Signal transduction The new supersedes the old Immunogen Species Rabbit Clonality Polyclonal React Species Human, (predicted: Mouse, Rat, Dog, Pig, ) Applications ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 26kDa Form Lyophilized or Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human GAMT Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. Product Detail background:
In the creatine biosynthesis pathway, glycine is converted to guanidinoacetate by amidinotransferase, and guanidinoacetate is then converted to creatine by Guanidinoacetate N-methyltransferase (GAMT). GAMT, a methyltransferase, uses S-adenosylmethionine as the methyl donor for this reaction. Methyltransferases are a type of transferase enzyme which transfers a methyl group to nucleic bases in DNA or amino acids in protein. Encoding a 236 amino acid protein, the human GAMT gene maps to chromosome 19p13.3. Defects in the GAMT gene leads to GAMT deficiency, which is associated with guanidinoacetate accumulation and decreased levels of creatine excretion in brain. Such biochemical changes are thought to lead to various neurological syndromes and muscular hypotonia.
Tissue Specificity:
Expressed in liver.
DISEASE:
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.
Similarity:
Belongs to the RMT2 methyltransferase family.
Database links:Clone ID: NP_000147.1 Human
Entrez Gene: 2593 Human
Omim: 601240 Human
SwissProt: Q14353 Human
Unigene: 81131 Human
Unigene: 33890 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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