KEGG   VARIANT: 121278v1
Entry
121278v1                      Variant                              
Name
TPH2 mutation
Type
Loss of function
Gene
TPH2  tryptophan hydroxylase 2 [KO:K00502]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607478
Network
nt06028  Dopamine and serotonin metabolism
nt06544  Neuroactive ligand signaling
Disease
H01646  Major depressive disorder
H01895  Attention deficit hyperactivity disorder (ADHD)
Reference
  Authors
Zhang X, Gainetdinov RR, Beaulieu JM, Sotnikova TD, Burch LH, Williams RB, Schwartz DA, Krishnan KR, Caron MG
  Title
Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression.
  Journal
Neuron 45:11-6 (2005)
DOI:10.1016/j.neuron.2004.12.014
Reference
  Authors
McKinney J, Johansson S, Halmoy A, Dramsdahl M, Winge I, Knappskog PM, Haavik J
  Title
A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder.
  Journal
Mol Psychiatry 13:365-7 (2008)
DOI:10.1038/sj.mp.4002152
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