Literature summary for 2.1.1.2 extracted from

Almeida, L.S.; Rosenberg, E.H.; Martinez-Munoz, C.; Verhoeven, N.M.; Vilarinho, L.; Jakobs, C.; Salomons, G.S.
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts (2006), Mol. Genet. Metab., 89, 392-394.

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Cloned(Commentary)

Cloned (Comment)	Organism
the open reading frame of the guanidinoacetate N-methyltransferase gene (NM_000156) from a fibroblast cell line is transfected into primary fibroblasts from a guanidinoacetate N-methyltransferase-deficient patient (Trp20Ser) or transient transected in HeLa cells.	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
60000	-	Western Blot analyses shows the presences of the guanidinoacetate N-methyltransferase-EGFP fusion protein	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q14353	fibroblast cell line	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast cell line	-	Homo sapiens	-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg]	Specific Activity Maximum [µmol/min/mg]	Comment	Organism
additional information	-	stable transfection of primary guanidinoacetate N-methyltransferase-deficient fibroblasts with pEGFP-guanidinoacetate N-methyltransferase results in the restoration of guanidinoacetate N-methyltransferase activity to 501 pmol creatine/mg/h from original 1 pmol creatine/mg/h. A 56fold increased guanidinoacetate N-methyltransferase activity is detected in transfected HeLa cells (7700 pmol creatine/mg/h vs. original 137 pmol creatine/mg/h).	Homo sapiens

Synonyms

Synonyms	Comment	Organism
GAMT	-	Homo sapiens

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Release 2023.1 (January 2023)