Tyrosine Hydroxylase

Alternative Names

  • TH
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OMIM Number

191290

NCBI Gene ID

7054

Uniprot ID

P07101

Length

7,887 bases

No. of Exons

14

No. of isoforms

6

Protein Name

Tyrosine 3-monooxygenase

Molecular Mass

58600 Da

Amino Acid Count

528

Genomic Location

chr11:2,163,929-2,171,815

Gene Map Locus
11p15.5

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000360.4:c.646G>AQatarNC_000011.10:g.2167484C>TLikely Pathogenic, PathogenicPathogenicNG_008128.1:g.9322G>A; NM_000360.4:c.646G>A; NP_000351.2:p.Gly216Ser762304556948892
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