GAMT
Guanidinoacetate N-methyltransferase
Protein Summary
Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674). 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]
- ENST00000252288
- ENSP00000252288
- ENSG00000130005
- ENST00000447102
- ENSP00000403536
- PIG2
- CCDS2
- TP53I2
- HEL-S-20
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
disease perturbation | 0.95 | ||
gene perturbation | 0.85 | ||
virus perturbation | 0.72 | ||
small molecule perturbation | 0.68 | ||
transcription factor perturbation | 0.61 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 184.6 (req: < 5)
Gene RIFs: 18 (req: <= 3)
Antibodies: 213 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 184.6 (req: >= 5)
Gene RIFs: 18 (req: > 3)
Antibodies: 213 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 11
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0