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Description
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq
Specifications
Specifications
| Antigen | GATM |
| Applications | ELISA, Western Blot |
| Classification | Monoclonal |
| Clone | 2H7 |
| Conjugate | Unconjugated |
| Description | Mouse monoclonal antibody raised against a partial recombinant GATM. |
| Formulation | ascites with no preservative |
| Gene | GATM |
| Gene Accession No. | NM_001482 |
| Gene Alias | AGAT/AT |
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