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GAMT

From SNPedia

is agene
is mentioned by
Full nameguanidinoacetate N-methyltransferase
EntrezGene2593
PheGenI2593
VariationViewer2593
ClinVarGAMT
GeneCardsGAMT
dbSNP2593
SADR2593
HugeNav2593
wikipediaGAMT
googleGAMT
gopubmedGAMT
EVSGAMT
HEFalMpGAMT
MyGene2GAMT
23andMeGAMT
UniProtQ14353
EnsemblENSG00000130005
OMIM601240
# SNPs11
 Max MagnitudeChromosome positionSummary
rs10489469401,401,329
rs12190927201,398,980
rs37042153101,398,964
rs5577682601,399,057
rs75319883601,399,587
rs76010138201,398,995
rs79605252501,398,960
rs79605252701,401,476
rs8033873401,401,418
rs8033873501,399,793
rs8033873601,399,810

Entrez Gene summary for GAMT Gene:

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. Pseudogenes of this gene are found on chromosomes 2 and 13. (provided by RefSeq, Feb 2012)

GeneCards Summary for GAMT Gene:

GAMT (guanidinoacetate N-methyltransferase) is a protein-coding gene.

Diseases associated with GAMT include movement disease, and cerebral creatine deficiency syndrome. GO annotations related to this gene include guanidinoacetate N-methyltransferase activity and methyltransferase activity.