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GAMT is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in its 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.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.
AA571402; CCDS2; epididymis secretory protein Li 20; GAMT; GMT; guanidinoacetate methyltransferase; guanidinoacetate N-methyltransferase; HEL-S-20; hypothetical protein LOC515270; PIG2; Spintz1; TP53I2; zgc:123136; zgc:123136 protein
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