TH
LOCUS ID7054
GENE_SYMBOLTH
GENE NAMEtyrosine hydroxylase
SYNONYMNSTYH, DYT14, DYT5b
CHROMOSOME11
HOMOLOGENE ID307
microRNAsNANA
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]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. It is reported that retinal dopamine and tyrosine hydroxylase protein levels are downregulated, and dopaminergic amacrine cells appear to be degenerating in the animal models of DR.26141638
Neuropathy1. In the early stage of STZ diabetic, the administration of Ad.BDNF into the vitreous cavities can increase TH protein levels and the density of dopaminergic amacrine cells in the STZ rats' retina.22553539