Structural highlights
Disease
TY3H_HUMAN Autosomal recessive dopa-responsive dystonia. The disease is caused by mutations affecting the gene represented in this entry. May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls.[1]
Function
TY3H_HUMAN Plays an important role in the physiology of adrenergic neurons.
See Also
References
- ↑ Bademci G, Edwards TL, Torres AL, Scott WK, Zuchner S, Martin ER, Vance JM, Wang L. A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. Hum Mutat. 2010 Oct;31(10):E1767-71. doi: 10.1002/humu.21351. PMID:20809526 doi:http://dx.doi.org/10.1002/humu.21351
