Guanidinoacetate N-methyltransferase

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GAMT
Protein GAMT PDB 1khh.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GAMT, CCDS2, HEL-S-20, PIG2, TP53I2, guanidinoacetate N-methyltransferase
External IDs OMIM: 601240 MGI: 1098221 HomoloGene: 32089 GeneCards: GAMT
RNA expression pattern
PBB GE GAMT 205354 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_138924
NM_000156

NM_010255
NM_001347119

RefSeq (protein)

NP_000147
NP_620279

NP_034385.1
NP_001334048
NP_034385

Location (UCSC) Chr 19: 1.4 – 1.4 Mb Chr 10: 80.26 – 80.26 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
guanidinoacetate N-methyltransferase
Identifiers
EC number 2.1.1.2
CAS number 9029-75-8
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

Guanidinoacetate N-methyltransferase (EC 2.1.1.2) is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3.[3]

S-adenosyl-L-methionine + guanidinoacetate S-adenosyl-L-homocysteine + creatine

Thus, the two substrates of this enzyme are S-adenosyl methionine and guanidinoacetate, whereas its two products are S-adenosylhomocysteine and creatine.

This enzyme belongs to the family of transferases, specifically those transferring one-carbon group methyltransferases. The systematic name of this enzyme class is S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase. Other names in common use include GA methylpherase, guanidinoacetate methyltransferase, guanidinoacetate transmethylase, methionine-guanidinoacetic transmethylase, and guanidoacetate methyltransferase. This enzyme participates in glycine, serine and threonine metabolism and arginine and proline metabolism.

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene.[3]

Structural studies[edit]

As of late 2007, 7 structures have been solved for this class of enzymes, with PDB accession codes 1KHH, 1P1B, 1P1C, 1XCJ, 1XCL, 1ZX0, and 2BLN.

See also[edit]

References[edit]