通路Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.
疾病相关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.
序列相似性Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Contains 1 ACT domain.