Tyrosine hydroxylase (TH) is an enzyme involved in the synthesis of catecholamine neurotransmitters dopamine, epinephrine, and norepinephrine. In all species, catecholamine synthesis is regulated by the interaction of TH with a cofactor, tetrahydrobiopterin (BH4). BH4 binds to the TH catalytic domain, resulting in enzymatic activity. Unlike TH in non-primate species, four human TH mRNA splice variants (hTH1-hTH4) have been isolated. These variants are identical in their catalytic domain, but differ in their N-terminal, regulatory domains. TH is also responsible for the conversion of L-tyrosine to L-dopa. TH plays a key role in the physiology of adrenergic neurons. The role of TH in the synthesis of catecholamine neurotransmitters suggests a correlation between the enzyme and a number of neuropathogenic diseases including: Parkinson's disease, schizophrenia, Segawa syndrome, and dystonia, as well as a variety of cardiovascular diseases.
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Protein Aliases: dystonia 14; EC 18.104.22.168; HGNC:11782; TH; TH isoform 3; TH isoform a; TH-4; TY3H; TYH antibody; Tyrosine 3-hydroxylase; Tyrosine 3-monooxygenase
Gene Aliases: DYT14; DYT5b; TH; TYH
UniProt ID: (Human) P07101
Entrez Gene ID: (Human) 7054