Guanidinoacetate-N-Methyltransferase, Recombinant Protein

PIG2; TP53I2; Guanidinoacetate Methyltransferase; Guanidinoacetate Transmethylase; Methionine-Guanidinoacetic Transmethylase; Guanidoacetate Methyltransferase

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

E Coli

> 95%

Supplied as lyophilized form in PBS, pH7.4, containing 5% trehalose, 0.01% sarcosyl.

Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months.
Stability Test: The thermal stability is described by the loss rate of the target protein. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. (Referring from China Biological Products Standard, which was calculated by the Arrhenius equation.) The loss of this protein is lessthan 5% within the expiration date under appropriate storage condition.

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customer’s specifications, please inquire.

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.

SDS-PAGE, Western (WB), ELISA (EIA), Immunoprecipitation (IP).

29,377 Da

guanidinoacetate N-methyltransferase

guanidinoacetate N-methyltransferase

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

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cytoplasm; cytosol; nucleus

Molecular Function: guanidinoacetate N-methyltransferase activity; methyltransferase activity; protein homodimerization activity

Biological Process: creatine biosynthetic process; creatine metabolic process; methylation; muscle contraction; organ morphogenesis; polyamine metabolic process; regulation of multicellular organism growth; S-adenosylhomocysteine metabolic process; S-adenosylmethionine metabolic process; spermatogenesis

Disease: Cerebral Creatine Deficiency Syndrome 2

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