| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
GAMT guanidinoacetate N-methyltransferase isoform a [KO: K00542]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06033 Glycine, serine and arginine metabolism |
|---|
| Disease |
| H00849 | Cerebral creatine deficiency syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K |
|---|
| Title |
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. |
|---|
| Journal |
Am J Hum Genet 58:914-22 (1996) |
|---|
| LinkDB |
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