3orh | pdb_00003orh

Human guanidinoacetate N-methyltransferase with SAH

spinqualitylabelsall models 3orh, resolution 1.86Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 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. For a guided tour on the structure components use FirstGlance. Ligands: SAH Gene: GAMT (Homo sapiens) Activity: Guanidinoacetate N-methyltransferase, with EC number 2.1.1.2 Resources: FirstGlance, OCA, RCSB, PDBsum 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. Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

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