Guanidinoacetate N-methyltransferase

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Guanidinoacetate N-methyltransferase
Protein GAMT PDB 1khh.png
PDB rendering based on 1khh.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols GAMT ; CCDS2; HEL-S-20; PIG2; TP53I2
External IDs OMIM601240 MGI1098221 HomoloGene32089 GeneCards: GAMT Gene
EC number
RNA expression pattern
PBB GE GAMT 205354 at tn.png
More reference expression data
Species Human Mouse
Entrez 2593 14431
Ensembl ENSG00000130005 ENSMUSG00000020150
UniProt Q14353 O35969
RefSeq (mRNA) NM_000156 NM_010255
RefSeq (protein) NP_000147 NP_034385
Location (UCSC) Chr 19:
1.4 – 1.4 Mb
Chr 10:
80.26 – 80.26 Mb
PubMed search [1] [2]
guanidinoacetate N-methyltransferase
EC number
CAS number 9029-75-8
IntEnz IntEnz view
ExPASy NiceZyme view
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

Guanidinoacetate N-methyltransferase (EC is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3.[1]

S-adenosyl-L-methionine + guanidinoacetate \rightleftharpoons 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.[1]

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]