Tyrosine Hydroxylase è un gene codificato dal simbolo TH. È noto anche come: Tyrosine 3-monooxygenase; Tyrosine 3-hydroxylase; TH; TYH. Tyrosine Hydroxylase ha una massa di 58.6kDa, una lunghezza di amminoacidi di 528, ed è implicato in Segawa syndrome autosomal recessive.
Offriamo 11 Tyrosine Hydroxylase ELISA kit per il rilevamento qualitativo o quantitativo di Tyrosine Hydroxylase da campioni di Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Plays an important role in the physiology of adrenergic neurons.
Sommario di 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.
Specificità del tessuto
Mainly expressed in the brain and adrenal glands.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
