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Literature summary for 2.1.1.8 extracted from

  • Ledesma, M.C.; Garcia-Martin, E.; Alonso-Navarro, H.; Martinez, C.; Jimenez-Jimenez, F.J.; Benito-Leon, J.; Puertas, I.; Rubio, L.; Lopez-Alburquerque, T.; Agundez, J.A.
    The Nonsynonymous Thr105Ile Polymorphism of the Histamine N-Methyltransferase is Associated to the Risk of Developing Essential Tremor (2008), Neuromolecular Med., 10, 356-361.
    View publication on PubMed

Application

Application Comment Organism
medicine results suggest that alterations of histamine homeostasis are associated with the risk of movement disorders Homo sapiens

Protein Variants

Protein Variants Comment Organism
T105I Thr105Ile polymorphism of the HNMT enzyme is analyzed in patients with essential tremor. Leukocytary DNA from 204 essential tremor patients and a control group of 295 unrelated healthy individuals is studied for the nonsynonymous HNMT Thr105Ile polymorphism by using amplification-restriction analyses. Patients with essential tremor show a higher frequency of homozygous HNMT 105Thr genotypes leading to high metabolic activity with a statistically significant gene-dose effect, as compared to healthy subjects Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
histamine N-methyltransferase
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Homo sapiens
HNMT
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Homo sapiens