Showing Protein Guanidinoacetate N-methyltransferase (HMDBP00426)

• 5663
• HMDBP05717

• 3-Phosphoglycerate dehydrogenase deficiency
• Arginine and proline metabolism
• Arginine and proline metabolism
• Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
• creatine biosynthesis
• Creatine deficiency, guanidinoacetate methyltransferase deficiency
• Dihydropyrimidine Dehydrogenase Deficiency (DHPD)
• Dimethylglycine Dehydrogenase Deficiency
• Dimethylglycine Dehydrogenase Deficiency
• Glycine, serine and threonine metabolism
• Glycine, serine and threonine metabolism
• Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
• Hyperglycinemia, non-ketotic
• Hyperornithinemia with gyrate atrophy (HOGA)
• Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome]
• Hyperprolinemia Type I
• Hyperprolinemia Type II
• L-arginine:glycine amidinotransferase deficiency
• Non Ketotic Hyperglycinemia
• Ornithine Aminotransferase Deficiency (OAT Deficiency)
• Prolidase Deficiency (PD)
• Prolinemia Type II
• Sarcosinemia

>711 bp
ATGAGCGCCCCCAGCGCGACCCCCATCTTCGCGCCCGGCGAGAACTGCAGCCCCGCGTGG
GGGGCGGCGCCCGCGGCCTACGACGCAGCGGACACGCACCTGCGCATCCTGGGCAAGCCG
GTGATGGAGCGCTGGGAGACCCCCTATATGCACGCGCTGGCCGCCGCCGCCTCCTCCAAA
GGGGGCCGGGTCCTGGAGGTGGGCTTTGGCATGGCCATCGCAGCGTCAAAGGTGCAGGAG
GCGCCCATTGATGAGCATTGGATCATCGAGTGCAATGACGGCGTCTTCCAGCGGCTCCGG
GACTGGGCCCCACGGCAGACACACAAGGTCATCCCCTTGAAAGGCCTGTGGGAGGATGTG
GCACCCACCCTGCCTGACGGTCACTTTGATGGGATCCTGTACGACACGTACCCACTCTCG
GAGGAGACCTGGCACACACACCAGTTCAACTTCATCAAGAACCACGCCTTTCGCCTGCTG
AAGCCGGGGGGCGTCCTCACCTACTGCAACCTCACCTCCTGGGGGGAGCTGATGAAGTCC
AAGTACTCAGACATCACCATCATGTTTGAGGAGACGCAGGTGCCCGCGCTGCTGGAGGCC
GGCTTCCGGAGGGAGAACATCCGTACGGAGGTGATGGCGCTGGTCCCACCGGCCGACTGC
CGCTACTACGCCTTCCCACAGATGATCACGCCCCTGGTGACCAAAGGCTGA

>Guanidinoacetate N-methyltransferase
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSK
GGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDV
APTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKS
KYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG

• 3ORH

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4. Isbrandt D, von Figura K: Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. Biochim Biophys Acta. 1995 Dec 27;1264(3):265-7. [PubMed:8547310 ]
5. Jenne DE, Olsen AS, Zimmer M: The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice. Biochem Biophys Res Commun. 1997 Sep 29;238(3):723-7. [PubMed:9325156 ]
6. Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K: Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet. 1996 May;58(5):914-22. [PubMed:8651275 ]
7. Battini R, Leuzzi V, Carducci C, Tosetti M, Bianchi MC, Item CB, Stockler-Ipsiroglu S, Cioni G: Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab. 2002 Dec;77(4):326-31. [PubMed:12468279 ]
8. Item CB, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Muhl A, Vilaseca MA, Korall H, Stockler-Ipsiroglu S: Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat. 2004 May;23(5):524. [PubMed:15108290 ]
9. Caldeira Araujo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomas H, Tavares de Almeida I, Jakobs C, Duran M: Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A. 2005 Mar 1;133A(2):122-7. [PubMed:15651030 ]
10. Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, 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. Mol Genet Metab. 2006 Jan;87(1):88-90. Epub 2005 Nov 15. [PubMed:16293431 ]
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