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Description
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. [provided by RefSeq
Specifications
Specifications
| Antigen | GAMT |
| Applications | ELISA |
| Classification | Monoclonal |
| Clone | 3H4 |
| Conjugate | Unconjugated |
| Description | Mouse monoclonal antibody raised against a partial recombinant GAMT. |
| Formulation | PBS with no preservative; pH 7.4 |
| Gene | GAMT |
| Gene Accession No. | NM_000156 |
| Gene Alias | PIG2/TP53I2 |
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