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Literature summary for 2.1.1.2 extracted from

  • Verbruggen, K.T.; Sijens, P.E.; Schulze, A.; Lunsing, R.J.; Jakobs, C.; Salomons, G.S.; van Spronsen, F.J.
    Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology (2007), Mol. Genet. Metab., 91, 294-296.
    View publication on PubMed

Application

Application Comment Organism
medicine guanidinoacetate methyltransferase deficient patients show intellectual disability, epilepsy and sigificant movement disorder Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information finding of a novel homozygous missense mutation in exon 5, p.Leu166Pro, c.497T>C Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
S-adenosyl-L-methionine + guanidinoacetate Homo sapiens
-
S-adenosyl-L-homocysteine + creatine
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
S-adenosyl-L-methionine + guanidinoacetate
-
Homo sapiens S-adenosyl-L-homocysteine + creatine
-
?

Synonyms

Synonyms Comment Organism
GAMT
-
Homo sapiens
guanidinoacetate methyltransferase
-
Homo sapiens