Human guanidinoacetate N-methyltransferase with SAHHuman guanidinoacetate N-methyltransferase with SAH

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:
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.

3orh, resolution 1.86Å

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OCA