Recombinant Human GATM

• Cat.No.: GATM-28986TH
• Product Overview: Recombinant fragment of Human GATM with an N-terminal proprietary tag; Predicted MW 36.63kDa.

Specification

• Description: This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.
• Protein length: 100 amino acids
• Molecular Weight: 36.630kDa inclusive of tags
• Tissue specificity: Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQ AATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIV GRAENACVPPFTIEVKANTY
• Sequence Similarities: Belongs to the amidinotransferase family.

Gene Information

• Gene Name: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) [ Homo sapiens ]
• Official Symbol: GATM
• Synonyms: GATM; glycine amidinotransferase (L-arginine:glycine amidinotransferase); glycine amidinotransferase, mitochondrial; AGAT
• Gene ID: 2628
• mRNA Refseq: NM_001482
• Protein Refseq: NP_001473
• MIM: 602360
• Uniprot ID: P50440
• Chromosome Location: 15q15.1
• Pathway: Arginine and proline metabolism, organism-specific biosystem; Arginine and proline metabolism, conserved biosystem; Creatine metabolism, organism-specific biosystem; Creatine pathway, organism-specific biosystem; Creatine pathway, conserved biosystem
• Function: glycine amidinotransferase activity; glycine amidinotransferase activity; transferase activity