GAMT, guanidinoacetate N-methyltransferase

GAMT, guanidinoacetate N-methyltransferase

• 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]

• Gene Synonyms (CCDS2, HEL-S-20, PIG2, TP53I2, guanidinoacetate N-methyltransferase, epididymis secretory protein Li 20,)
• NCBI Gene ID: 2593
• Species: Homo sapiens (Human)
• UNIPROT ID#>>V9HWB2
  UNIPROT ID#>>Q14353
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

guanidinoacetate N-methyltransferase interacts with:

• BICD cargo adaptor 2
  fibronectin type III and SPRY domain containing 1
  phenylalanyl-tRNA synthetase 2, mitochondrial
  protection of telomeres 1
  RAB24, member RAS oncogene family
  taste 2 receptor member 41
  telomeric repeat binding factor 1
  TERF2 interacting protein
  tripartite motif containing 39

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.