产品描述 概述Recombinant Human Guanidinoacetate N-methyltransferase is produced by our E.coli expression system and the target gene encoding Met1-Gly236 is expressed with a 6His tag at the N-terminus, 6His tag at the C-terminus. 使用说明This material is offered by Novin Biotech for research, laboratory or further evaluation purposes. NOT FOR HUMAN USE. 技术规格| Tag | N, C-6His | | 种属 | Human | | 表达系统 | E.coli | | Accession# | Q14353 | | Source | E.coli | | Formulation_Description | Supplied as a 0.2 μm filtered solution of 20mM TrisHCl, 1mMDTT, pH 8.0 . | | Storage | Store at < -20°C, stable for 6 months after receipt.Please minimize freeze-thaw cycles. | | Purity | Greater than 95% as determined by reducing SDS-PAGE. | | Endotoxin | Less than 0.1 ng/μg (1 EU/μg) as determined by LAL test. | | Background | GAMT is a methyltransferase which belongs to the class I-like SAM-binding methyltransferase superfamily. It contains one RMT2 (arginine N-methyltransferase 2-like) domain and is expressed in liver. GAMT converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency, which 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 in brain and body fluids. |
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