GATM blocking peptide
GATM Antibody (N-term) Blocking Peptide
NCBI and Uniprot Product Information
NCBI 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. [provided by RefSeq, Jul 2008]
Uniprot Description
GATM: 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. Defects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency). AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Belongs to the amidinotransferase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - glycine, serine and threonine; Transferase; EC 2.1.4.1; Amino Acid Metabolism - arginine and proline; Mitochondrial
Chromosomal Location of Human Ortholog: 15q21.1
Cellular Component: mitochondrial intermembrane space
Molecular Function: glycine amidinotransferase activity
Biological Process: creatine biosynthetic process; creatine metabolic process
Disease: Cerebral Creatine Deficiency Syndrome 3
Research Articles on GATM
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Product Notes
The GATM gatm (Catalog #AAA9217590) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "GATM, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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