background:
Phenylalanine hydroxylase (PAH), tyrosine hydroxylase (TH), tryptophan hydroxylase (TPH) and tryptophan hydroxylase 2 (TPH2) comprise a small family of monooxygenases that catalyze the rate-limiting step in the catabolism of aromatic L-amino acids and utilize tetrahydropterine as a cofactor. TPH2 is highly expressed in the central nervous system (CNS), mainly in the brain. TPH2 catalyzes the first step in the biosynthesis of serotonin in the CNS and melatonin in the pineal gland, and may be involved in the pathology of several neuropsychiatric disorders. Glucocorticoid-mediated reduction of TPH2 is associated with the etiology of mood disorders, specifically psychotic major depression, and TPH2 may be related to dysregulation of serotonin neurotransmission in the brain which commonly leads to suicidal behavior.
Tissue Specificity:
Brain specific.
DISEASE:
Genetic variation in TPH2 may influence susceptibility to major depressive disorder (MDD) [MIM:608516].
Defects in TPH2 are the cause of susceptibility to attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]. ADHD is a neurobehavioral developmental disorder and is primarily characterized by the co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. Note=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.
Similarity:
Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
Contains 1 ACT domain.
Database links:
Entrez Gene: 121278 Human
Entrez Gene: 216343 Mouse
Entrez Gene: 317675 Rat
Omim: 607478 Human
SwissProt: Q2KIQ5 Cow
SwissProt: Q8IWU9 Human
SwissProt: Q8CGV2 Mouse
SwissProt: Q8CGU9 Rat
Unigene: 376337 Human
Unigene: 31597 Mouse
Unigene: 28510 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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