TH Chromosome 11
Tyrosine hydroxylase
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What This Gene Does
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]
Gene Info
Gene Group
Aromatic amino acid hydroxylase family
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000180176
Associated Conditions (6)
Autosomal recessive DOPA responsive dystonia
Generalized dystonia
TH-related disorder
Inborn genetic diseases
Dystonic disorder
Dystonia 5
Key Variants
RS11564717
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Generalized dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS118175546
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, TH-related disorder, Autosomal recessive DOPA responsive dystonia
Health Risk
RS121917764
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS1239693053
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, TH-related disorder, Autosomal recessive DOPA responsive dystonia
Health Risk
RS12419447
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS1288293766
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS139474171
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS139742336
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, TH-related disorder, Autosomal recessive DOPA responsive dystonia
Health Risk
RS143405115
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS1437906953
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS1457094087
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
RS147131010
Conflicting classifications of pathogenicity
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
Health Risk
All Variants (209)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS775531779 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS777421313 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive DOPA responsive dystonia, TH-related disorder, Autosomal recessive DOPA responsive dystonia |
| RS777477661 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS868563700 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS886038763 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1021029193 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057516491 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057516712 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057516736 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057516819 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057516874 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057517003 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057517162 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1064795631 | Health Risk | Likely pathogenic | — |
| RS1169314384 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS121917762 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS121917765 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1266265578 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1340482195 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1367289835 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1476695915 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554922200 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554922434 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554922441 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554923004 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554923121 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554923305 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554923317 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554923513 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554923802 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554923810 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1554924357 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1590168246 | Health Risk | Likely pathogenic | Dystonic disorder, Autosomal recessive DOPA responsive dystonia, Dystonic disorder |
| RS1590168368 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1590169802 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1590170978 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1846202659 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS200730608 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS200751977 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133689319 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133689324 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133690169 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133690469 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133691221 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133692304 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133693369 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133696288 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2495782383 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2495789156 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2495789345 | Health Risk | Likely pathogenic | Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |