GAMT (NM_000156) Human Mass Spec Standard

SKU
PH300528
GAMT MS Standard C13 and N15-labeled recombinant protein (NP_000147)
$3,255.00
3 Weeks*
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Specifications
Product Data
Tag C-Myc/DDK
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence [RC200528]
Predicted MW 26.3 kDa
Protein Sequence
Protein Sequence
RC200528
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
Storage Store at -80°C. Avoid repeated freeze-thaw cycles.
Stability Stable for 3 months from receipt of products under proper storage and handling conditions.
Shipping Dry Ice
Reference Data
RefSeq NP_000147
RefSeq Size 1138
RefSeq ORF 708
Synonyms CCDS2; HEL-S-20; PIG2; TP53I2
Locus ID 2593
UniProt ID Q14353
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, Metabolic pathways, serine and threonine metabolism
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Citations

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