Application | Comment | Organism |
---|---|---|
medicine | guanidinoacetate methyltransferase deficiency is a rare autosomal recessive inborn error of creatine synthesis leading to accumulation of guanidinoacetate and lack of creatine in all tissues, particularly in the brain and muscle | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | mutation analysis of the guanidinoacetate methyltransferase gene is performed, the patient is found to be compound heterozygous for a known mitation in exon 2, c.327G>A, and for a novel mutation in exon 1, c170C>A | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
S-adenosyl-L-methionine + guanidinoacetate | Homo sapiens | - |
S-adenosyl-L-homocysteine + creatine | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
S-adenosyl-L-methionine + guanidinoacetate | - |
Homo sapiens | S-adenosyl-L-homocysteine + creatine | - |
? |
Synonyms | Comment | Organism |
---|---|---|
guanidinoacetate methyltransferase | - |
Homo sapiens |