基因名:
TH
产品别名:
DYT14; DYT5b; TYH; TH; tyrosine hydroxylase; tyrosine hydroxylase; tyrosine 3-monooxygenase; dystonia 14; tyrosine 3-hydroxylase; 磷酸化酪氨酸羟化酶; 酪氨酸羟化酶; 酪氨酸羟化酶(TH);
背景信息:
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. [provided by RefSeq, Jul 2008]