| Gene Symbol |
TH
|
| Gene Synonyms |
TYH DYT14 DYT5b |
| Gene Full Name |
tyrosine hydroxylase |
| Gene Summary |
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] |
| Alternative Names |
Dystonia 14 DYT14 DYT5b EC 1.14.16.2 OTTHUMP00000011225 OTTHUMP00000011226 ple Protein Pale TH The TY3H_HUMAN TYH Tyrosine 3 hydroxylase Tyrosine 3 monooxygenase Tyrosine 3-hydroxylase Tyrosine 3-monooxygenase Tyrosine hydroxylase |
| Molecular Weight(MW) |
59 kDa |
| Cellular Localization |
Cell projection,Cytoplasm,Cytoplasmic vesicle,Nucleus,Synapse. |