GAMT (NM_000156) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) Met1-Gly236
Tag	N-His&C-His
Predicted MW	29.5 kDa
Purity	>95% as determined by SDS-PAGE and Coomassie blue staining
Buffer	Supplied as a 0.2 um filtered solution of 20mM Tris-HCl, 1mMDTT, pH 8.0 .
Storage	Store at < -20°C, stable for 6 months after receipt. Please minimize freeze-thaw cycles.
Stability	Stable for at least 3 months from date of receipt under proper storage and handling conditions.
Endotoxin	Endotoxin level is < 0.1 ng/µg of protein (< 1 EU/µg)
Reference Data
RefSeq
Locus ID	2593
UniProt ID	Q14353
Cytogenetics	19p13.3
Synonyms	CCDS2; HEL-S-20; PIG2; TP53I2
Summary	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]
Protein Families	Druggable Genome
Protein Pathways	Arginine and proline metabolism, Glycine, serine and threonine metabolism, Metabolic pathways

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