GAMT
| is a | gene |
| is | mentioned by |
| Full name | guanidinoacetate N-methyltransferase |
| EntrezGene | 2593 |
| PheGenI | 2593 |
| VariationViewer | 2593 |
| ClinVar | GAMT |
| GeneCards | GAMT |
| dbSNP | 2593 |
| Diseases | GAMT |
| SADR | 2593 |
| HugeNav | 2593 |
| wikipedia | GAMT |
| GAMT | |
| gopubmed | GAMT |
| EVS | GAMT |
| HEFalMp | GAMT |
| MyGene2 | GAMT |
| 23andMe | GAMT |
| UniProt | Q14353 |
| Ensembl | ENSG00000130005 |
| OMIM | 601240 |
| # SNPs | 15 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104894694 | 0 | 1,401,329 | |
| rs1057524499 | 0 | 1,399,005 | |
| rs121909272 | 0 | 1,398,980 | |
| rs370421531 | 0 | 1,398,964 | |
| rs55776826 | 0 | 1,399,057 | |
| rs747656257 | 0 | 1,399,168 | |
| rs753198836 | 0 | 1,399,587 | |
| rs760101382 | 0 | 1,398,995 | |
| rs796052525 | 0 | 1,398,960 | |
| rs796052527 | 0 | 1,401,476 | |
| rs80338734 | 0 | 1,401,418 | |
| rs80338735 | 0 | 1,399,793 | |
| rs80338736 | 0 | 1,399,810 | |
| rs886054247 | 0 | 1,401,344 | |
| rs967404590 | 0 | 1,401,344 |
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.
