TH, Official Symbol THprovided by HGNC Official Full Name tyrosine hydroxylaseprovided by HGNC Primary source HGNC:HGNC:11782 See related Ensembl:ENSG00000180176 MIM:191290; AllianceGenome:HGNC:11782 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TYH; DYT14; DYT5b 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] Expression Restricted expression toward adrenal (RPKM 42.8) See more Orthologs mouse all