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GAMT Rabbit pAb
GAMT Rabbit pAb
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Application 
| IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | Q14353 |
| Reactivity | Human, Mouse |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 26318 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human GAMT |
| Epitope Specificity | 101-200/236 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SIMILARITY | Belongs to the RMT2 methyltransferase family. |
| 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. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | 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. |
| Gene ID | 2593 |
|---|---|
| Other Names | Guanidinoacetate N-methyltransferase, 2.1.1.2, GAMT |
| Target/Specificity | Expressed in liver. |
| Dilution | IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. 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. |
| Name | GAMT |
|---|---|
| Function | Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor (PubMed:24415674, PubMed:26003046, PubMed:26319512). Important in nervous system development (PubMed:24415674). |
| Tissue Location | Expressed in liver.. |
For Research Use Only. Not For Use In Diagnostic Procedures.
Provided below are standard protocols that you may find useful for product applications.
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.
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