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TPH2

Involvement in disease

Major depressive disorder

MDD

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.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Attention deficit-hyperactivity disorder 7

ADHD7

A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone.

None

Disease susceptibility is associated with variants 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.

Pathway

Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.

Sequence Similarities

Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.

Tissue Specificity

Brain specific.

Alternative names

NTPH, TPH2, Tryptophan 5-hydroxylase 2, Neuronal tryptophan hydroxylase, Tryptophan 5-monooxygenase 2

swissprot:Q8IWU9 entrezGene:121278 omim:607478