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Immunogen sequence: MSAPSATPIF APGENCSPAW GAAPAAYDAA DTHLRILGKP VMERWETPYM HALAAAASSK GGRVLEVGFG MAIAASKVQE APIDEHWIIE CNDGVFQRLR DWAPRQTHKV IPLKGLWEDV APTLPDGHFD GILYDTYPLS EETWHTHQFN FIKNHAFRLL KPGGVLTYCN LTSWGELMKS KYSDITIMFE ETQVPALLEA GFRRENIRTE VMALVPPADC RYYAFPQMIT PLVTKG
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 methyltransferase; Guanidinoacetate N-methyltransferase
基因别名: AA571402; CCDS2; GAMT; GMT; HEL-S-20; PIG2; Spintz1; TP53I2
UniProt ID: (Human) Q14353, (Mouse) O35969
Entrez Gene ID: (Human) 2593, (Mouse) 14431, (Rat) 25257