3orh
Human guanidinoacetate N-methyltransferase with SAHHuman guanidinoacetate N-methyltransferase with SAH
DiseaseDisease
[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 StructureAbout 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.