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GAMT
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.
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins
Predicted location
Intracellular
Single cell type specificity
Group enriched (Hepatocytes, Proximal tubular cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Cell line enhanced (Hep G2)
Interaction
Monomer.
Molecular function
Methyltransferase, Transferase
More Types Infomation
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- Derivation: Phage display library
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB
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For Research Use Only. Not For Clinical Use.