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.
Aliases: TYH; DYT14; DYT5b
Entrez GeneID: 7054
Swissprot: P07101
WB Predicted band size: 58.6kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Rat
Immunogen: Purified recombinant fragment of human TH (AA: 44-208) expressed in E. Coli.