Structural highlights
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.
Function
GAMT_HUMAN
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
