TH

Tyrosine 3-monooxygenase ;
Tyrosine 3-hydroxylase ;
TH ;

catalytic activity:L-tyrosine + tetrahydrobiopterin + O (2) = 3 ,4-dihydroxy-L-phenylalanine + 4a-hydroxytetrahydrobiopterin. ,cofactor:Fe (2+) ion. ,disease:Defects in TH are the cause of dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]; also known as autosomal recessive Segawa syndrome. ARDRD is a form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions , often leading to abnormal postures. Some cases of ARDRD present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia , it is an eminently treatable condition , due to a favorable response to L-DOPA. ,enzyme regulation:Phosphorylation leads to an increase in the catalytic activity. ,function:Plays an important role in the physiology of adrenergic neurons. ,online information:Tyrosine hydroxylase entry ,pathway:Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2. ,similarity:Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. ,tissue specificity:Mainly expressed in the brain and adrenal glands. ,

regulation of neurotransmitter levels , eye development , response to hypoxia , eye photoreceptor cell differentiation ,synaptic transmission , dopaminergic , heart morphogenesis , tyrosine metabolic process , cellular amino acid derivative metabolic process , biogenic amine metabolic process , catecholamine metabolic process , dopamine biosynthetic process from tyrosine , cell-cell signaling , synaptic transmission , nerve-nerve synaptic transmission , sensory organ development , heart development , sensory perception , visual perception , behavior , learning or memory , learning ,memory , mating behavior , mating , locomotory behavior , feeding behavior , regulation of heart contraction , aromatic amino acid family metabolic process , amine biosynthetic process , catechol metabolic process , response to endogenous stimulus , response to hormone stimulus , response to organic substance , phenol metabolic process , reproductive behavior , transmission of nerve impulse , neuron differentiation , embryonic camera-type eye development , diol metabolic process , neurotransmitter metabolic process , neurotransmitter biosynthetic process , cellular amino acid derivative biosynthetic process , biogenic amine biosynthetic process , epinephrine metabolic process , norepinephrine metabolic process , dopamine biosynthetic process , dopamine metabolic process , epinephrine biosynthetic process ,norepinephrine biosynthetic process , catecholamine biosynthetic process , photoreceptor cell development , eye photoreceptor cell development , eating behavior , camera-type eye development , pigmentation , regulation of system process , nitrogen compound biosynthetic process , response to ethanol , photoreceptor cell differentiation , embryonic eye morphogenesis , response to steroid hormone stimulus , embryonic organ morphogenesis , embryonic organ development , eye morphogenesis , camera-type eye morphogenesis , embryonic camera-type eye morphogenesis ,embryonic morphogenesis , neuron development , neurological system process , cognition , sensory perception of light stimulus , behavioral interaction between organisms , oxidation reduction , response to oxygen levels ,

Cytoplasm , perinuclear region . Nucleus . Cell projection , axon . Cytoplasm . Cytoplasmic vesicle , secretory vesicle , synaptic vesicle . When phosphorylated at Ser-19 shows a nuclear distribution and when phosphorylated at Ser-31 as well at Ser-40 shows a cytosolic distribution (By similarity) . Expressed in dopaminergic axons and axon terminals. .