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. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GAMT-20-RE | 20 (40 μL) | 200 μL |  |
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| GAMT-20-OR | 20 (40 μL) | 200 μL |  |
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| GAMT-20-GO | 20 (40 μL) | 200 μL |  |
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| GAMT-20-GR | 20 (40 μL) | 200 μL |  |
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| GAMT-20-AQ | 20 (40 μL) | 200 μL |  |
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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. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
Gene Symbol : GAMT
Gene Name : Guanidinoacetate N-methyltransferase
Chromosome : CHR 19: 140,156,9-139,702,5
Locus : 19p13.3
Alt. Genes : LRPPRC
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