GAMT Protein, Human, Recombinant (His)

Ref. TM-TMPJ-01114

Produktinformation

• Name: GAMT Protein, Human, Recombinant (His)
• Synonyme: Guanidinoacetate N-methyltransferase, TP53I2, PIG2, GAMT

Beschreibung

GAMT is a methyltransferase which belongs to the class I-like SAM-binding methyltransferase superfamily. It contains one RMT2 (arginine N-methyltransferase 2-like) domain and is expressed in liver. GAMT converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency, which is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.

• Marke: Targetmol

Chemische Eigenschaften

• Molekulargewicht: 27-32 KDa (reducing condition)
• Farbe/Form: Solid