Recombinant Human GAMT Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: GAMT-3154H
• Product Overview: GAMT MS Standard C13 and N15-labeled recombinant protein (NP_000147) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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.
• Molecular Mass: 26.3 kDa
• AA Sequence: MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKGTRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: GAMT guanidinoacetate N-methyltransferase [ Homo sapiens (human) ]
• Official Symbol: GAMT
• Synonyms: GAMT; guanidinoacetate N-methyltransferase; PIG2; TP53I2
• Gene ID: 2593
• mRNA Refseq: NM_000156
• Protein Refseq: NP_000147
• MIM: 601240
• UniProt ID: Q14353