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.
Pack Size | Availability | Price/USD | Quantity |
---|---|---|---|
10 μg | 5 days | $ 116.00 | |
50 μg | 5 days | $ 352.00 | |
500 μg | 5 days | $ 1,900.00 | |
1 mg | 5 days | $ 2,730.00 |
Description | 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. |
Species | Human |
Expression System | E. coli |
Tag | N,C-6His |
Accession Number | Q14353 |
Synonyms | Guanidinoacetate N-methyltransferase, TP53I2, PIG2, GAMT |
Amino Acid | Met1-Gly236 |
Construction | 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. |
Protein Purity | Greater than 90% as determined by reducing SDS-PAGE. (QC verified) |
Molecular Weight | 27-32 KDa, reducing conditions |
Endotoxin | Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test. |
Formulation | Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 1mM DTT, pH 8.0. |
Stability & Storage |
Store at ≤-70°C, stable for 6 months after receipt. Store at ≤-70°C, stable for 3 months under sterile conditions after opening. Please minimize freeze-thaw cycles. |
Shipping |
The product is shipped on dry ice/polar packs. Upon receipt, store it immediately at the temperature listed below. |
Research 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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GAMT Protein, Human, Recombinant (His) PIG-2 Guanidinoacetate N-methyltransferase PIG 2 TP53I2 PIG2 GAMT recombinant recombinant-proteins proteins protein