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Peptide Sequence: PLSEETWHTH QFNFIKNHAF RLLKPGGVLT YCNLTSWGEL MKSKYSDITI MFEETQVPAL LEAGFRRENI RTEVMALVPP ADCRYYAFPQ MITPLVTK
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: epididymis secretory protein Li 20; Guanidinoacetate N-methyltransferase
基因别名: CCDS2; GAMT; HEL-S-20; PIG2; TP53I2
UniProt ID: (Human) Q14353
Entrez Gene ID: (Human) 2593