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Statements

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Гуанідиноацетат-N-метилтрансфераза Guanidinoacetato N-metiltransferasi グアニジノ酢酸-N-メチルトランスフェラーゼ Guanidinoacetat-N-Methyltransferase Guanidinoacetate N-methyltransferase
rdfs:comment
La guanidinoacetato N-metiltransferasi è un enzima appartenente alla classe delle transferasi, che catalizza la seguente reazione: S-adenosil-L-metionina + guanidinoacetato ⇄ S-adenosil-L-omocisteina + creatina グアニジノ酢酸-N-メチルトランスフェラーゼ(guanidinoacetate N-methyltransferase)は、グリシン、セリン、トレオニン、アルギニンおよびプロリン代謝酵素の一つで、次の化学反応を触媒する酵素である。 S-アデノシル-L-メチオニン + グアニジノ酢酸 S-アデノシル-L-ホモシステイン + クレアチン この酵素の基質はS-アデノシル-L-メチオニン、グアニジノ酢酸とH+で、生成物はS-アデノシル-L-ホモシステインとクレアチンである。 この酵素は転移酵素の一つで、特に一炭素基を転移させるメチルトランスフェラーゼである。組織名はS-adenosyl-L-methionine:N-guanidinoacetate methyltransferaseで、別名にGA methylpherase、guanidinoacetate methyltransferase、guanidinoacetate transmethylase、methionine-guanidinoacetic transmethylase、guanidoacetate methyltransferaseがある。 Guanidinoacetate N-methyltransferase (EC 2.1.1.2) is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3. S-adenosyl-L-methionine + guanidinoacetate S-adenosyl-L-homocysteine + creatine Thus, the two substrates of this enzyme are S-adenosyl methionine and guanidinoacetate, whereas its two products are S-adenosylhomocysteine and creatine. GAMT (англ. Guanidinoacetate N-methyltransferase) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 19-ї хромосоми. Довжина поліпептидного ланцюга білка становить 236 амінокислот, а молекулярна маса — 26 318. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Guanidinoacetat-N-Methyltransferase (GAMT) ist dasjenige Enzym, welches die Herstellung von Kreatin aus Guanidinoacetat katalysiert. Kreatin ist unentbehrlich als Energiezwischenspeicher in den Muskeln. Mutationen am GAMT-Gen können zum (seltenen) GAMT-Mangel führen, der mit neurologischen Störungen und Muskel-Hypotonus einhergeht.
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グアニジノ酢酸-N-メチルトランスフェラーゼ(guanidinoacetate N-methyltransferase)は、グリシン、セリン、トレオニン、アルギニンおよびプロリン代謝酵素の一つで、次の化学反応を触媒する酵素である。 S-アデノシル-L-メチオニン + グアニジノ酢酸 S-アデノシル-L-ホモシステイン + クレアチン この酵素の基質はS-アデノシル-L-メチオニン、グアニジノ酢酸とH+で、生成物はS-アデノシル-L-ホモシステインとクレアチンである。 この酵素は転移酵素の一つで、特に一炭素基を転移させるメチルトランスフェラーゼである。組織名はS-adenosyl-L-methionine:N-guanidinoacetate methyltransferaseで、別名にGA methylpherase、guanidinoacetate methyltransferase、guanidinoacetate transmethylase、methionine-guanidinoacetic transmethylase、guanidoacetate methyltransferaseがある。 Guanidinoacetat-N-Methyltransferase (GAMT) ist dasjenige Enzym, welches die Herstellung von Kreatin aus Guanidinoacetat katalysiert. Kreatin ist unentbehrlich als Energiezwischenspeicher in den Muskeln. Mutationen am GAMT-Gen können zum (seltenen) GAMT-Mangel führen, der mit neurologischen Störungen und Muskel-Hypotonus einhergeht. GAMT (англ. Guanidinoacetate N-methyltransferase) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 19-ї хромосоми. Довжина поліпептидного ланцюга білка становить 236 амінокислот, а молекулярна маса — 26 318. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Кодований геном білок за функціями належить до трансфераз, . Задіяний у таких біологічних процесах, як ацетилювання, альтернативний сплайсинг. Білок має сайт для зв'язування з . La guanidinoacetato N-metiltransferasi è un enzima appartenente alla classe delle transferasi, che catalizza la seguente reazione: S-adenosil-L-metionina + guanidinoacetato ⇄ S-adenosil-L-omocisteina + creatina Guanidinoacetate N-methyltransferase (EC 2.1.1.2) is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3. S-adenosyl-L-methionine + guanidinoacetate S-adenosyl-L-homocysteine + creatine Thus, the two substrates of this enzyme are S-adenosyl methionine and guanidinoacetate, whereas its two products are S-adenosylhomocysteine and creatine. This enzyme belongs to the family of transferases, specifically those transferring one-carbon group methyltransferases. The systematic name of this enzyme class is S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase. Other names in common use include GA methylpherase, guanidinoacetate methyltransferase, guanidinoacetate transmethylase, methionine-guanidinoacetic transmethylase, and guanidoacetate methyltransferase. This enzyme participates in and arginine and proline metabolism. 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.
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