|Other Names||Guanidinoacetate N-methyltransferase, GAMT|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|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.|
|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.
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.
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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