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Literature summary for 2.1.1.2 extracted from

  • Leuzzi, V.; Carducci, C.; Carducci, C.; Matricardi, M.; Bianchi, M.C.; Di Sabato, M.L.; Artiola, C.; Antonozzi, I.
    A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme (2006), Mol. Genet. Metab., 87, 88-90.
    View publication on PubMed
Search for more literature for 2.1.1.2

Protein Variants

Protein Variants Comment Organism
L197P the sequencing of the guanidinoacetate N-methyltransferase gene reveals a homozygous missense mutation on exon 6, resulting in the substitution of leucine in position 197 with proline. The 13-year old girl has mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical alterations. Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 13 years old, female, L197P transition on exon 6 of the guanidinoacetate N-methyltransferase gene
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Source Tissue

Source Tissue Comment Organism Textmining
blood plasma L197P mutation in exon 6: guanidinoacetate increases to 33.6 microMol/l, creatine decreases to 24 microMol/l Homo sapiens
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lymphoblast L197P mutation in exon 6, reduces the activity of guanidinoacetate N-methyltransferase Homo sapiens
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urine L197P mutation in exon 6: guanidinoacetate increases to 2566 microMol/l, creatine decreases to 3.7 microMol/l Homo sapiens
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Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 L197P transition in exon 6 reduces activity to 0.03 nMol creatine/mg/h, activity is assessed in lymphoblasts Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information since the L197P mutation in the exon 6 of the guanidinoacetate N-methyltransferase gene leaves the isoform B of the enzyme unaffected, the occurrence of biochemical alterations and disease in this subject testifies against the possibility that isoform B has guanidinoacetate N-methyltransferase activity Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
GAMT
-
 Homo sapiens