The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 65 kDa (predicted molecular weight: 59 kDa).
1/50 - 1/100.
FunctionPlays an important role in the physiology of adrenergic neurons.
Tissue specificityMainly expressed in the brain and adrenal glands.
PathwayCatecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs to the biopterin-dependent aromatic amino acid hydroxylase family.