Guanidinoacetate N-Methyltransferase, Recombinant Protein

GAMT Human; Guanidinoacetate N-Methyltransferase Human Recombinant; PIG2; TP53I2; GAMT; Guanidinoacetate N-methyltransferase

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 95.0% as determined by SDS-PAGE.

The GAMT protein solution contains 20mM Tris-HCl, pH-8, 1mM DTT and 10% Glycerol.
Sterile filtered colorless solution.

Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.

Small volumes of GAMT recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Description: Recombinant Human GAMT produced in E Coli is a single, non-glycosylated polypeptide chain containing 256 amino acids (1-236 a.a) and having a molecular mass of 28.4 kDa. GAMT is fused to 20 amino acid His-Tag at N-terminus and purified by conventional chromatography techniques.

Introduction: GAMT is a methyltransferase that transfers guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects GAMT gene result in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. GAMT take parts in the two-step synthesis of creatine from the protein building blocks glycine, arginine, and methionine. GAMT takes part in supplying the energy for muscle contraction, and is in addition a significant player in nervous system functioning. GAMT is active in the liver, pancreas, and kidne.

ENZYMES; Enzymes; Transferase

29,377 Da

guanidinoacetate N-methyltransferase

guanidinoacetate N-methyltransferase; epididymis secretory protein Li 20

Guanidinoacetate N-methyltransferase

GAMT_HUMAN

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. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]

GAMT: Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency). GAMT deficiency 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 (GAA) in brain and body fluids. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Methyltransferase; EC 2.1.1.2; Amino Acid Metabolism - glycine, serine and threonine; Contractile; Amino Acid Metabolism - arginine and proline

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cytosol

Molecular Function: methyltransferase activity; guanidinoacetate N-methyltransferase activity

Biological Process: methylation; creatine biosynthetic process; organ morphogenesis; muscle contraction; regulation of multicellular organism growth; spermatogenesis; creatine metabolic process

Disease: Cerebral Creatine Deficiency Syndrome 2

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