Aliases for TH Gene
External Ids for TH Gene
Previous GeneCards Identifiers for TH Gene
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]
GeneCards Summary for TH Gene
TH (Tyrosine Hydroxylase) is a Protein Coding gene. Diseases associated with TH include Segawa Syndrome, Autosomal Recessive and Dystonia. Among its related pathways are Alpha-synuclein signaling and p38 signaling mediated by MAPKAP kinases. Gene Ontology (GO) annotations related to this gene include enzyme binding and oxygen binding. An important paralog of this gene is TPH2.
UniProtKB/Swiss-Prot Summary for TH Gene
Plays an important role in the physiology of adrenergic neurons (By similarity). Positively regulates the regression of retinal hyaloid vessels during postnatal development (By similarity).