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 cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GATM-20-RE | 20 (40 μL) | 200 μL |  |
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| GATM-20-OR | 20 (40 μL) | 200 μL |  |
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| GATM-20-GO | 20 (40 μL) | 200 μL |  |
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| GATM-20-GR | 20 (40 μL) | 200 μL |  |
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| GATM-20-AQ | 20 (40 μL) | 200 μL |  |
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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 cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
Gene Symbol : GATM
Gene Name : Glycine amidinotransferase
Chromosome : CHR 15: 454,023,16-453,611,23
Locus : 15q21.1
Alt. Genes : LRPPRC
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