Tyrosine Hydroxylase ist ein Gen, das durch das Symbol TH kodiert wird. Es ist auch bekannt als: Tyrosine 3-monooxygenase; Tyrosine 3-hydroxylase; TH; TYH. Tyrosine Hydroxylase hat eine Masse von 58.6kDa, eine Aminosäurelänge von 528, und ist an Segawa syndrome autosomal recessive beteiligt.
Wir bieten 36 antikörper gegen Tyrosine Hydroxylase, aufgewachsen in Kaninchen, Maus, Ziege, Huhn und Sheep, welche geeignet sind für WB, IHC, ELISA, ICC/IF and FC mit Proben abgeleitet von Human, Maus, Ratte, Schwein, Kaninchen und Affe.
Gen- und Proteininformationen
UniProt Zusammenfassung
Plays an important role in the physiology of adrenergic neurons.
Entrez Zusammenfassung
The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
Gewebespezifität
Mainly expressed in the brain and adrenal glands.
Rolle bei Krankheiten
Segawa syndrome autosomal recessive: 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 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.
Sequenzähnlichkeiten
Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
