Tyrosine Hydroxylase est un gène codé par le symbole TH. Il est également connu sous le nom de: Tyrosine 3-monooxygenase; Tyrosine 3-hydroxylase; TH; TYH. Tyrosine Hydroxylase a une masse de 58.6kDa, une longueur d'acide aminé de 528, et est impliqué dans Segawa syndrome autosomal recessive.
Nous proposons 11 Tyrosine Hydroxylase kits ELISA pour la détection qualitative ou quantitative de Tyrosine Hydroxylase à partir d'échantillons Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Plays an important role in the physiology of adrenergic neurons.
Résumé Entrez
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.
Spécificité tissulaire
Mainly expressed in the brain and adrenal glands.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
