The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 2 - 4 µg/ml. Detects a band of approximately 55 kDa (predicted molecular weight: 59 kDa).
Use a concentration of 0.1 - 0.3 µg/ml.
機能Plays an important role in the physiology of adrenergic neurons.
組織特異性Mainly expressed in the brain and adrenal glands.
パスウェイCatecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2.
関連疾患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. Note=May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls.
配列類似性Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
ab106806 staining Tyrosine Hydroxylase in the following tissues, human hypothalamic supraoptic (SO), paraventricular (Pa) and periventricular (Pe) nuclei. Antigen retrieval with citrate buffer pH 6 at 80oC for 30 minutes.