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Literature summary for 2.1.1.2 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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Synonyms

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

General Information

General Information Comment Organism
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
malfunction GAMT-deficient patients have strongly decreased levels of creatine in cerebrospinal fluid but are able to import creatine from the blood Homo sapiens