|Other Accession||P50442, P50441, Q9D964, Q4R806, Q2HJ74, NP_001473.1|
|Other Names||Glycine amidinotransferase, mitochondrial, L-arginine:glycine amidinotransferase, Transamidinase, GATM, AGAT|
|Target/Specificity||The synthetic peptide sequence is selected from aa 365-378 of HUMAN GATM|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.|
|Cellular Location||Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane|
|Tissue Location||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.|
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Provided below are standard protocols that you may find useful for product applications.
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.
Kottgen, A., et al. Nat. Genet. 42(5):376-384(2010)
Kottgen, A., et al. Nat. Genet. 41(6):712-717(2009)
Lion-Francois, L., et al. Neurology 67(9):1713-1714(2006)
Cullen, M.E., et al. Circulation 114 (1 SUPPL), I16-I20 (2006) :
Battini, R., et al. J. Pediatr. 148(6):828-830(2006)
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