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Glycine Amidinotransferase (GATM)

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AT; AGAT; Transamidinase; L-arginine:glycine amidinotransferase

Glycine Amidinotransferase (GATM)
CCC G455
HGNC 4175
MGI 1914342
PubMed 12671064
RGD 71090
UniProt P50440
Wiki GATM
GATM 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.
The largest human cDNA sequence encodes a 423-amino acid polypeptide including a 37-amino acid signal sequence. The mature porcine and human proteins are 94% identical to each other and 36% identical to bacterial L-arginine:inosamine phosphate amidinotransferase.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glycine Amidinotransferase (GATM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glycine Amidinotransferase (GATM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glycine Amidinotransferase (GATM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glycine Amidinotransferase (GATM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glycine Amidinotransferase (GATM) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glycine Amidinotransferase (GATM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glycine Amidinotransferase (GATM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glycine Amidinotransferase (GATM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glycine Amidinotransferase (GATM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glycine Amidinotransferase (GATM) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glycine Amidinotransferase (GATM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glycine Amidinotransferase (GATM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glycine Amidinotransferase (GATM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glycine Amidinotransferase (GATM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glycine Amidinotransferase (GATM) ELISA Kit Customized Service Offer
  1. "The amino acid sequences of human and pig L-arginine:glycine amidinotransferase."FEBS Lett. 339:101-107(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15." Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The purification and characterization of human kidney L-arginine:glycine amidinotransferase."Arch. Biochem. Biophys. 251:747-755(1986) [PubMed] [Europe PMC] [Abstract]
  6. "Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue."Biochem. J. 322:771-776(1997) [PubMed] [Europe PMC] [Abstract]
  7. "Structure and reaction mechanism of L-arginine:glycine amidinotransferase."Biol. Chem. 378:193-197(1997) [PubMed] [Europe PMC] [Abstract]
  8. "Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis."Circulation 114:I16-I20(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Unbalanced placental expression of imprinted genes in human intrauterine growth restriction."Placenta 27:540-549(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Limited evolutionary conservation of imprinting in the human placenta."Proc. Natl. Acad. Sci. U.S.A. 103:6623-6628(2006) [PubMed] [Europe PMC] [Abstract]
  11. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  12. "l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation."Mol. Genet. Metab. 101:228-232(2010) [PubMed] [Europe PMC] [Abstract]
  13. "Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency."Mol. Genet. Metab. 106:48-54(2012) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis."EMBO J. 16:3373-3385(1997) [PubMed] [Europe PMC] [Abstract]
  16. "Substrate binding and catalysis by L-arginine:glycine amidinotransferase -- a mutagenesis and crystallographic study."Eur. J. Biochem. 247:483-490(1997) [PubMed] [Europe PMC] [Abstract]
  17. "The ligand-induced structural changes of human L-arginine:glycine amidinotransferase. A mutational and crystallographic study."J. Biol. Chem. 274:3026-3032(1999) [PubMed] [Europe PMC] [Abstract]
  18. "Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans."Am. J. Hum. Genet. 69:1127-1133(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes."Mol. Genet. Metab. 109:260-268(2013) [PubMed] [Europe PMC] [Abstract]
  20. "Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency."Neuromuscul. Disord. 23:670-674(2013) [PubMed] [Europe PMC] [Abstract]