3orh
From Proteopedia
Human guanidinoacetate N-methyltransferase with SAH
Disease
[GAMT_HUMAN] Guanidinoacetate methyltransferase deficiency. Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]: Autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Note=The disease is caused by mutations affecting the gene represented in this entry.
About this Structure
3orh is a 4 chain structure with sequence from Homo sapiens. This structure supersedes the now removed PDB entry 1zx0. Full crystallographic information is available from OCA.
Categories: Guanidinoacetate N-methyltransferase | Homo sapiens | Arrowsmith, C H. | Bochkarev, A. | Dong, A. | Edwards, A M. | Loppnau, P. | Plotnikov, A N. | SGC, Structural Genomics Consortium. | Sundstrom, M. | Wu, H. | Zeng, H. | Guanidinoacetate n-methyltransferase | Sgc | Structural genomic | Structural genomics consortium | Transferase
