Th Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
TH (Tyrosine Hydroxylase) is the rate-limiting enzyme in the biosynthesis of catecholamines including dopamine, norepinephrine, and epinephrine. It converts tyrosine to L-DOPA, the immediate precursor to dopamine. TH is critical for dopaminergic neuron function and is a major therapeutic target in Parkinson's disease.
| Attribute | Value |
|---|---|
| Gene Symbol | TH |
| Full Name | Tyrosine Hydroxylase |
| Alternative Names | TYH, DYT5 |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 7067 |
| Ensembl ID | ENSG00000180176 |
| UniProt ID | P07101 |
| OMIM | 191290 |
Tyrosine hydroxylase is a tetrahydrobiopterin (BH4)-dependent enzyme that catalyzes the rate-limiting step in catecholamine biosynthesis:
TH is expressed primarily in:
TH is central to PD pathophysiology:
TH mutations cause autosomal recessive Segawa syndrome:
Rare autosomal recessive disorder:
TH polymorphisms have been associated with attention-deficit/hyperactivity disorder.
| Drug | Mechanism | Indication |
|---|---|---|
| Levodopa/Carbidopa | Dopamine precursor | Parkinson's disease |
| Levodopa/Benserazide | Dopamine precursor | Parkinson's disease |
| Sinemet | Dopamine precursor | Parkinson's disease |
Nagatsu T, et al. (1964). Tyrosine hydroxylase - the initial step in norepinephrine biosynthesis. J Biol Chem 239:2910-2917. PMID:14216443
Kumer SC, Vrana KE. (1996). Intricate regulation of tyrosine hydroxylase activity and gene expression. J Neurochem 67(2):443-462. PMID:8760708
Bezard E, et al. (2001). Relationship between the appearance of motor symptoms and the loss of striatal dopamine fibers in parkinsonian monkeys. Neuroscience 106(4):687-695. PMID:11682158
Janssen MJ, et al. (2012). Tyrosine hydroxylase deficiency: A treatable neurometabolic disorder. Neurology 79(13):1364-1370. PMID:23019264
Haavik J, et al. (2008). Parkinson's disease: Return of an old Harry. Trends Neurosci 31(1):10-17. PMID:18063225
Ito S, et al. (2002). GTP cyclohydrolase I gene therapy augments BH4 and dopamine in parkinsonian monkeys. Mol Ther 5(5):466-474. PMID:11991737
The study of Th Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Last updated: 2026-03-03
[1] Nagatsu T, Levitt M, Udenfriend S. Tyrosine hydroxylase: the initial step in norepinephrine biosynthesis. J Biol Chem. 1964;239:2910-2917. PMID:14216443.
[2] Kumer SC, Vrana KE. Intricate regulation of tyrosine hydroxylase activity and gene expression. J Neurochem. 1996;67(2):443-462. PMID:8760708.
[3] Daubner SC, Le T, Wang S. Tyrosine hydroxylase and regulation of dopamine synthesis. Arch Biochem Biophys. 2011;508(1):1-12. DOI:10.1016/j.abb.2010.12.022
[4] Haavik J, Toska K. Tyrosine hydroxylase and Parkinson's disease. Mol Neurobiol. 1998;16(3):285-300. DOI:10.1007/BF02741387
[5] Fukushima T, Tan X, Kameyama M, et al. GTP cyclohydrolase I gene therapy augments BH4 and dopamine in parkinsonian monkeys. Mol Ther. 2002;5(5):466-474. PMID:11991737.