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Description for Protein GAMT

guanidinoacetate N-methyltransferase
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 4)
Summary:
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.1.1.2
KEGG - Orthology:
K00542
KEGG - Pathway(s):
hsa00260; hsa00330; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
TP53I2; PIG2; EC 2.1.1.2; Guanidinoacetate N-methyltransferase isoform a; Guanidinoacetate N-methyltransferase isoform b
Approved Symbol:
GAMT
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Creatine(db);
  • Guanidine(db);
  • N-[Amino(Imino)Methyl]Glycine(db);
  • S-Adenosyl-L-Homocysteine(db)

    Associated Genetic Diseases:

  • GAMT deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03142 Entrez Gene ID: 2593 OMIM ID: 601240 Swissprot Accession: A8K0A0; Q14353;