GAMT, Recombinant Protein

Guanidinoacetate N-methyltransferase

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

E Coli

Greater than 95% as determined by reducing SDS-PAGE.

Supplied as a 0.2 muM filtered solution of 20mM Tris-HCl, 1mM DTT, pH 8.0.

Lyophilized protein should be stored at -20 degree C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 2-8 degree C for 2-7 days. Aliquots of reconstituted samples are stable at -20 degree C for 3 months.

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.

Recombinant Human GAMT Protein is produced by our E Coli expression system and the target gene encoding Met1-Gly236 is expressed with a 6His tag at the N-terminus, 6His tag at the C-terminus.

ELISA (EIA),Western Blot (WB), SDS-PAGE, Mass Spectrometry (MS)

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; EC 2.1.1.2; Methyltransferase

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cytoplasm; cytosol; nucleus

Molecular Function: guanidinoacetate N-methyltransferase activity; methyltransferase activity

Biological Process: creatine biosynthetic process; creatine metabolic process; muscle contraction; S-adenosylhomocysteine metabolic process; S-adenosylmethionine metabolic process

Disease: Cerebral Creatine Deficiency Syndrome 2

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