GAMT (NM_000156) Human Recombinant Protein

CAT#: TP721002

Purified recombinant protein of Human guanidinoacetate N-methyltransferase (GAMT), transcript variant 1

Specifications

Product Data

• Species: Human
• Expression Host: E. coli
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  Met1-Gly236
• Tag: N-His&C-His
• Predicted MW: 29.5 kDa
• Purity: >95% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: Provided lyophilized from a 0.2 μm filtered solution of 20 mM Tris-HCl, 150 mM NaCl
• Endotoxin: Endotoxin level is < 0.1 ng/µg of protein (< 1 EU/µg)
• Storage: Store at -80°C.
• Stability: Stable for at least 3 months from date of receipt under proper storage and handling conditions.

Reference Data

• RefSeq: NP_000147
• Locus ID: 2593
• UniProt ID: Q14353, V9HWB2
• Cytogenetics: 19p13.3
• Refseq Size: 1138
• Refseq ORF: 708
• 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