Anti-phospho-Tyrosine Hydroxylase (Ser40)

The protein encoded by Tyrosine Hydroxylase 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. Protein function: Plays an important role in the physiology of adrenergic neurons. Positively regulates the regression of retinal hyaloid vessels during postnatal development. [The UniProt Consortium]