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Literature summary for 1.14.16.4 extracted from

  • Haghighi, F.; Bach-Mizrachi, H.; Huang, Y.Y.; Arango, V.; Shi, S.; Dwork, A.J.; Rosoklija, G.; Sheng, H.T.; Morozova, I.; Ju, J.; Russo, J.J.; Mann, J.J.
    Genetic architecture of the human tryptophan hydroxylase 2 gene: existence of neural isoforms and relevance for major depression (2008), Mol. Psychiatry, 13, 813-820.
    View publication on PubMed
Search for more literature for 1.14.16.4

Cloned(Commentary)

Cloned (Comment) Organism
DNA and amio acid sequence determination and analysis of short and long isozymes TPH2, expression analysis in brain Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information a naturally occuring mutation in exon 6, g.22879A-G, a single nucleotide polymorphism, causes truncation of the enzyme to the native short form of brain-specific isozyme TPH2, which causes impaired serotonin transmission and depression, phenotype, overview 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 brain-specific isozyme TPH2 is the rate-limiting enzyme in serotonin biosynthesis, a truncated enzyme version occurs in brain tissues being the cause of impaired serotonin transmission 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q8IWU9 Caucasian individuals
-

Source Tissue

Source Tissue Comment Organism Textmining
amygdala expression of the native truncated mutant TPH2 Homo sapiens
-
brain specific expression of isozyme TPH2 Homo sapiens
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brain stem expression of the native truncated mutant TPH2 Homo sapiens
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hippocampus expression of the native truncated mutant TPH2 Homo sapiens
-
neuron neural isozyme TPH2 Homo sapiens
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prefrontal cortex expression of the native truncated mutant TPH2 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-tryptophan + tetrahydrobiopterin + O2
-
 Homo sapiens 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin
-
 ?
L-tryptophan + tetrahydrobiopterin + O2 brain-specific isozyme TPH2 is the rate-limiting enzyme in serotonin biosynthesis, a truncated enzyme version occurs in brain tissues being the cause of impaired serotonin transmission Homo sapiens 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin
-
 ?

Synonyms

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