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GAMT Antibody (Center) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q14353 |
|---|
| Gene ID | 2593 |
|---|---|
| Other Names | Guanidinoacetate N-methyltransferase, GAMT |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | GAMT |
|---|---|
| Function | Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674). |
| Tissue Location | Expressed in liver.. |
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Provided below are standard protocols that you may find useful for product applications.
Background
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.
References
Saito, A., et al. J. Hum. Genet. 54(6):317-323(2009)Engelke, U.F., et al. NMR Biomed 22(5):538-544(2009)Franke, B., et al. Birth Defects Res. Part A Clin. Mol. Teratol. 85(3):216-226(2009)Dhar, S.U., et al. Mol. Genet. Metab. 96(1):38-43(2009)
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