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Literature summary extracted from

  • Braissant, O.; Henry, H.
    AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review (2008), J. Inherit. Metab. Dis., 31, 230-239.
    View publication on PubMed

Application

EC Number Application Comment Organism
2.1.4.1 medicine creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain Mammalia

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.1.4.1 L-arginine + glycine Mammalia
-
 L-ornithine + guanidinoacetate
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.1.1.2 Homo sapiens
-
-
-
2.1.1.2 Mus musculus
-
-
-
2.1.4.1 Mammalia
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.1.1.2 astrocyte
-
 Homo sapiens
-
2.1.1.2 astrocyte
-
 Mus musculus
-
2.1.1.2 brain expressed within the brain, both during development and in adulthood Homo sapiens
-
2.1.1.2 brain expressed within the brain, both during development and in adulthood Mus musculus
-
2.1.1.2 central nervous system
-
 Homo sapiens
-
2.1.1.2 central nervous system
-
 Mus musculus
-
2.1.1.2 cerebral gray matter
-
 Homo sapiens
-
2.1.1.2 cerebral gray matter
-
 Mus musculus
-
2.1.1.2 liver
-
 Homo sapiens
-
2.1.1.2 liver
-
 Mus musculus
-
2.1.1.2 additional information not expressed in microcapillary endothelial cells Homo sapiens
-
2.1.1.2 additional information not expressed in microcapillary endothelial cells Mus musculus
-
2.1.1.2 neuron
-
 Homo sapiens
-
2.1.1.2 neuron
-
 Mus musculus
-
2.1.1.2 oligodendrocyte
-
 Homo sapiens
-
2.1.1.2 oligodendrocyte
-
 Mus musculus
-
2.1.4.1 brain
-
 Mammalia
-
2.1.4.1 central nervous system
-
 Mammalia
-
2.1.4.1 kidney
-
 Mammalia
-
2.1.4.1 liver
-
 Mammalia
-
2.1.4.1 pancreas
-
 Mammalia
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.1.1.2 S-adenosyl-L-methionine + guanidinoacetate
-
 Homo sapiens S-adenosyl-L-homocysteine + creatine
-
 ?
2.1.1.2 S-adenosyl-L-methionine + guanidinoacetate
-
 Mus musculus S-adenosyl-L-homocysteine + creatine
-
 ?
2.1.4.1 L-arginine + glycine
-
 Mammalia L-ornithine + guanidinoacetate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.1.1.2 GAMT
-
 Homo sapiens
2.1.1.2 GAMT
-
 Mus musculus
2.1.1.2 guanidinoacetate methyltransferase
-
 Homo sapiens
2.1.1.2 guanidinoacetate methyltransferase
-
 Mus musculus
2.1.4.1 AGAT
-
 Mammalia
2.1.4.1 arginine:glycine amidinotransferase
-
 Mammalia
2.1.4.1 glycine amidinotransferase
-
 Mammalia

General Information

EC Number General Information Comment Organism
2.1.1.2 malfunction GAMT-deficient patients have strongly decreased levels of creatine in cerebrospinal fluid but are able to import creatine from the blood Homo sapiens
2.1.1.2 malfunction GAMT-cerebrospinal fluid knockout mice show decreased levels of creatine within their brain, which however still reach 1.4 mM or 0.4-0.5 mol/g of tissue, and a very significant increase in guanidinoacetate (1.9 mol/g tissue), GAMT knockout mice slowly replenish their brain creatine upon creatine treatment Mus musculus