3orh
From Proteopedia
(Difference between revisions)
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== Disease == | == 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. | [[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. | ||
| - | == Function == | ||
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== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Revision as of 13:16, 25 December 2014
Human guanidinoacetate N-methyltransferase with SAH
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