Tryptophan Hydroxylase 1 (TPH1)

TPH; TPRH; TRPH; Tryptophan 5-Monooxygenase

SPN	Q469
HGNC	12008
MGI	98796
PubMed	22483952
RGD	3895
UniProt	P17752
Wiki	TPH1

TPH1 encodes a member of the aromatic amino 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 have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.

Tryptophan hydroxylase is important for the brain. However, Tph1 is not detected in the brain. Nevertheless the effect of variations in the TPH1 gene on brain-related variables, such as personality traits and neuropsychiatric disorders, has been studied. One human mutant of TPH1, A218C found in intron 7, is highly associated with schizophrenia.

Reference

"Complete coding sequence of human tryptophan hydroxylase."
Nucleic Acids Res. 18:4257-4257(1990) [PubMed] [Europe PMC] [Abstract]

"Cloning and expression of rabbit and human brain tryptophan hydroxylase cDNA in Escherichia coli."
Arch. Biochem. Biophys. 315:445-453(1994) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Alternative splicing at the 3'-cDNA of human tryptophan hydroxylase."
J. Neurochem. 71:1769-1772(1998) [PubMed] [Europe PMC] [Abstract]

"Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin."
Biochemistry 41:12569-12574(2002) [PubMed] [Europe PMC] [Abstract]