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Literature summary for 1.14.16.4 extracted from

  • Cichon, S.; Winge, I.; Mattheisen, M.; Georgi, A.; Karpushova, A.; Freudenberg, J.; Freudenberg-Hua, Y.; Babadjanova, G.; Van Den Bogaert, A.; Abramova, L.I.; Kapiletti, S.; Knappskog, P.M.; McKinney, J.; Maier, W.; Jamra, R.A.; Schulze, T.G.; Schumacher, J.; Propping, P.; Rietschel, M.; Haavik, J.
    Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder (2008), Hum. Mol. Genet., 17, 87-97.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene TPH2, DNA and amino acid sequence determination and analysis, genotyping, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information determination of several common and rare genetic variations, single nucleotide polymorphisms, in the TPH2 gene, e.g. of rs11178997 in the 5'-associated haplotype block, through a sequential sequencing and SNP-based genotyping, contribution of TPH2 genetic variability to the aetiology of bipolar affective disorder, BPAD, phenotypes, overview Homo sapiens
P206S a naturyll occuring rare, non-synonymous single nucleotide polymorphism rs17110563 showing significant association with bipolar disorder, reduced thermal stability and solubility of the mutated enzyme compared to the wild-type enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
L-tryptophan + tetrahydrobiopterin + O2 Homo sapiens TPH2 control 5-hydroxytryptamine, i.e. serotonin, biosynthesis and its deficiency is involved in affective disorders, pathophysiological mechanism, overview 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin
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?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q8IWU9 healthy persons and affective disorder patients from Germany and Russia
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Source Tissue

Source Tissue Comment Organism Textmining
brain
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Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-tryptophan + tetrahydrobiopterin + O2
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Homo sapiens 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin
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?
L-tryptophan + tetrahydrobiopterin + O2 TPH2 control 5-hydroxytryptamine, i.e. serotonin, biosynthesis and its deficiency is involved in affective disorders, pathophysiological mechanism, overview Homo sapiens 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin
-
?

Synonyms

Synonyms Comment Organism
TPH2
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Homo sapiens
tryptophan hydroxylase-2
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Homo sapiens