TPH2 Chromosome 12
Tryptophan hydroxylase 2
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What This Gene Does
This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Aromatic amino acid hydroxylase family
Locus Type
gene with protein product
Location
12q21.1
Ensembl
ENSG00000139287
Associated Conditions (4)
Unipolar depression
susceptibility to
Attention deficit-hyperactivity disorder
7
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS120074175 | Health Risk | risk factor | Unipolar depression, susceptibility to, Unipolar depression |
| RS120074176 | Health Risk | risk factor | Attention deficit-hyperactivity disorder, susceptibility to, 7 |