Entrez gene ID | | 7054 |
Official gene symbol | | TH |
Full name | | tyrosine hydroxylase |
Aliases | | ,DYT14,DYT5b,TYH, |
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] |
Location | | Chromosome: 11 Locus: 11p15.5 |
Gene position | | 2193035 - 2185159 Map Viewer |
Gene orientation | | minus |
Gene size | | 7877 bp |
Gene sequence |
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OMIM ID | | 191290 |
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