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MGP006422

UniProt Annotations

Entry Information
Gene Nametryptophan hydroxylase 2
Protein EntryTPH2_HUMAN
UniProt IDQ8IWU9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=a; IsoId=Q8IWU9-1; Sequence=Displayed; Name=b; IsoId=Q8IWU9-2; Sequence=VSP_040971;
Biophysicochemical PropertiesKinetic parameters: KM=41.3 uM for L-tryptophan {ECO:0000269|PubMed:17905754}; Vmax=833 nmol/min/mg enzyme {ECO:0000269|PubMed:17905754};
Catalytic ActivityL-tryptophan + tetrahydrobiopterin + O(2) = 5- hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin.
CofactorName=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence={ECO:0000250};
DiseaseAttention deficit-hyperactivity disorder 7 (ADHD7) [MIM:613003]: A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. {ECO:0000269|PubMed:18347598}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Naturally occurring variants of TPH2 with impaired enzyme activity could cause deficiency of serotonin production and result in an increased risk of developing behavioral disorders.
DiseaseMajor depressive disorder (MDD) [MIM:608516]: A common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
PathwayAromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.
Rna EditingModified_positions=433 {ECO:0000269|PubMed:20126463}, 441 {ECO:0000269|PubMed:20126463}, 468 {ECO:0000269|PubMed:20126463}; Note=Modulates the kinetic properties of both isoforms.;
SimilarityBelongs to the biopterin-dependent aromatic amino acid hydroxylase family. {ECO:0000305}.
SimilarityContains 1 ACT domain. {ECO:0000255|PROSITE- ProRule:PRU01007}.
Tissue SpecificityBrain specific.
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