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Tyrosine hydroxylase in involved in the conversion of phenylalanine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines and as such has a key role in the physiology of adrenergic neurons. TH is encoded by four distinct mRNAs produced by alternative splicing of a single primary transcript. Expression of the mRNAs varies in different parts of the nervous system. Defects in TH are the cause of autosomal recessive Segawa syndrome.
|Gene Name:||tyrosine hydroxylase|
|Synonyms:||TH, DYT14, Dystonia 14, TYH, Tyrosine 3-hydroxylase, Tyrosine hydroxylase, DYT5b, Tyrosine 3-monooxygenase|
|Target Sequences:||NM_000360 NP_000351.2 P07101|
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