3orh: Difference between revisions
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{{STRUCTURE_3orh| PDB=3orh | SCENE= }} | {{STRUCTURE_3orh| PDB=3orh | SCENE= }} | ||
===Human guanidinoacetate N-methyltransferase with SAH=== | ===Human guanidinoacetate N-methyltransferase with SAH=== | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/GAMT_HUMAN GAMT_HUMAN]] Guanidinoacetate methyltransferase deficiency. Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:[http://omim.org/entry/612736 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 Structure== | ==About this Structure== | ||
[[3orh]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=1zx0 1zx0]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3ORH OCA]. | |||
[[Category: Guanidinoacetate N-methyltransferase]] | [[Category: Guanidinoacetate N-methyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
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[[Category: Structural genomics consortium]] | [[Category: Structural genomics consortium]] | ||
[[Category: Transferase]] | [[Category: Transferase]] | ||
Revision as of 08:22, 2 May 2013
Human guanidinoacetate N-methyltransferase with SAH
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.
About 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.
