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Recombinant Human GATM

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

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