TH Gene - Tyrosine Hydroxylase
Comprehensive gene card for TH, encoding the rate-limiting enzyme in catecholamine biosynthesis
Gene Information Card
| Symbol | TH |
|---|---|
| Full Name | Tyrosine Hydroxylase |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 7054 ncbi.nlm.nih.gov/gene/7054 |
| Ensembl ID | ENSG00000180176 |
| UniProt ID | P07101 |
| OMIM ID | 191290 |
| HGNC ID | 11782 |
| Aliases | TYH, DYT5b, TH deficiency |
Description
The TH gene encodes tyrosine hydroxylase, the rate-limiting enzyme in the biosynthesis of catecholamines (dopamine, norepinephrine, epinephrine). It hydroxylates L-tyrosine to L-DOPA, which is then decarboxylated to dopamine. Mutations in TH cause autosomal recessive tyrosine hydroxylase deficiency (DYT5b), leading to infantile parkinsonism, dystonia, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tyrosine hydroxylase deficiency (DYT5b) | Loss-of-function mutations reduce dopamine synthesis, impairing motor control | OMIM #605407, ClinVar |
| Segawa syndrome (dopa-responsive dystonia) | TH deficiency leads to low dopamine; responds to L-DOPA therapy | OMIM #191290, ClinVar |
| Parkinson disease (susceptibility) | TH activity decline contributes to dopamine loss in substantia nigra | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (substantia nigra) | 45.2 | High |
| Adrenal gland | 38.7 | High |
| Heart | 2.1 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.5 | High expression; used for catecholamine studies |
| SK-N-BE(2) | 55.0 | High expression |
| HEK293 | 0.8 | Low/undetectable |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.698G>A (p.Arg233His) | Missense | ~30% in TH deficiency | Reduced enzyme activity |
| c.707T>C (p.Leu236Pro) | Missense | ~15% | Severe loss of function |
| c.1195C>T (p.Arg399*) | Nonsense | <5% | Premature truncation, no activity |
Mutation functional classification
Loss of Function (LOF)
Most TH mutations are loss-of-function, reducing or abolishing tyrosine hydroxylase activity, leading to dopamine deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in TH.
Dominant Negative (DN)
No dominant-negative mutations reported; TH deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • tyrosine 3-monooxygenase activity (GO:0004503) | • catecholamine biosynthetic process (GO:0006584) |
| • nucleus (GO:0005634) | • cytosol (GO:0005829) |
| • metal ion binding (GO:0046872) |
Pathways
• Catecholamine biosynthesis (Reactome R-HSA-209776)
• Dopamine metabolism (KEGG hsa00350)
• Tyrosine metabolism (KEGG hsa00350)
Protein Summary
Tyrosine hydroxylase (TH) is a 528-amino-acid homotetrameric enzyme that uses tetrahydrobiopterin (BH4) and iron as cofactors. It catalyzes the hydroxylation of L-tyrosine to L-DOPA, the first and rate-limiting step in catecholamine synthesis. TH is regulated by phosphorylation and feedback inhibition by dopamine. Defects cause dopamine deficiency, leading to movement disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YTHDC1 Knockout A-549 Cell Line | EDC07652 | Human | 91746 | Details Get a Quote |
| Thy1 Knockout BV-2 Cell Line | EDJ-KQ07 | Mouse | 21838 | Details Get a Quote |
| Thy1 Knockout LL/2 (LLC1) Cell Line | EDJ-KQ52 | Mouse | 21838 | Details Get a Quote |
| Thy1 Knockout RAW 264.7 Cell Line | EDJ-KQ62 | Mouse | 21838 | Details Get a Quote |
| Thy1 Knockout C2C12 Cell Line | EDJ-KQ81 | Mouse | 21838 | Details Get a Quote |
| Thy1 Knockout DC2.4 Cell Line | EDJ-KQ83 | Mouse | 21838 | Details Get a Quote |
| Thy1 Knockout Kupffer Cell Line | EDJ-KQ87 | Mouse | 21838 | Details Get a Quote |
| THBS1 Knockout HEK293 Cell Line | EDJ-KQ127 | Human | 7057 | Details Get a Quote |
| THPO Knockout HEK293 Cell Line | EDJ-KQ540 | Human | 7066 | Details Get a Quote |
| THBS2 Knockout HEK293 Cell Line | EDJ-KQ872 | Human | 7058 | Details Get a Quote |
| THBS3 Knockout HEK293 Cell Line | EDJ-KQ873 | Human | 7059 | Details Get a Quote |
| THEM4 Knockout HEK293 Cell Line | EDJ-KQ875 | Human | 117145 | Details Get a Quote |
| YTHDF2 Knockout HEK293 Cell Line | EDJ-KQ1055 | Human | 51441 | Details Get a Quote |
| CYTH4 Knockout HEK293 Cell Line | EDJ-KQ1074 | Human | 27128 | Details Get a Quote |
| YTHDF1 Knockout HEK293 Cell Line | EDJ-KQ1110 | Human | 54915 | Details Get a Quote |
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