GAMT (NM_000156) Human Mass Spec Standard

Specifications

Product Data
Description	GAMT MS Standard C13 and N15-labeled recombinant protein (NP_000147)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC200528
Predicted MW	26.3 kDa
Protein Sequence	Sequence Link (showhide) RC200528
Tag	C-Myc/DDK
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration	>0.05 µg/µL as determined by microplate BCA method
Labeling Method	Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq	NP_000147
RefSeq Size	1138
RefSeq ORF	708
Synonyms	CCDS2; HEL-S-20; PIG2; TP53I2
Locus ID	2593
Cytogenetics	19p13.3
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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