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. Method: X-ray diffraction, Resolution 1.86Å Ligands: SAH Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT 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.

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