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TH

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.
Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Extravillous trophoblasts, Endometrial stromal cells, Leydig cells, Syncytiotrophoblasts)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (PC-3, SK-BR-3)

Interaction

Homotetramer (Ref. 18, PubMed:24947669). Interacts (when phosphorylated at Ser-19) with YWHAG; one YWHAG dimer bounds to one TH tetramer, this interaction may influence the phosphorylation and dephosphorylation of other sites (PubMed:24947669).

Molecular function

Monooxygenase, Oxidoreductase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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