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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]
TH (Tyrosine Hydroxylase) is a Protein Coding gene. Diseases associated with TH include Segawa Syndrome, Autosomal Recessive and Dystonia. Among its related pathways are Neuroscience and Monoamine Transport. Gene Ontology (GO) annotations related to this gene include enzyme binding and oxygen binding. An important paralog of this gene is PAH.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0004511 | tyrosine 3-monooxygenase activity | IBA,IDA | 2896667 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 11943812 |
GO:0008198 | ferrous iron binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | IBA,IDA | 10907721 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005790 | smooth endoplasmic reticulum | IDA | 12457228 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amphetamine addiction | ||
2 | Metabolism |
.40
|
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3 | Tyrosine metabolism |
Tyrosine metabolism p.1 (dopamine)
.32
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|
4 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics | ||
5 | Biogenic Amine Synthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IDA | 17520326 |
GO:0001963 | synaptic transmission, dopaminergic | ISS | -- |
GO:0001975 | response to amphetamine | IEA | -- |
GO:0003007 | heart morphogenesis | NAS | 12113410 |
GO:0006585 | dopamine biosynthetic process from tyrosine | IBA,NAS | 10907721 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Metyrosine | Approved | Pharma | Target, binder | 0 | ||
Phenylalanine | Approved, Investigational | Nutra | Target, binder | 256 | ||
Tyrosine | Approved, Investigational | Nutra | Target, binder | 1044 | ||
Sapropterin | Approved, Investigational | Pharma | Target, cofactor | 0 | ||
Methylphenidate | Approved, Investigational | Pharma | 431 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
α-methyltyrosine |
|
Inhibitor, Inhibition |
|
|
||
4a-Carbinolamine tetrahydrobiopterin |
|
79647-29-3 |
|
|||
4a-hydroxytetrahydrobiopterin |
|
70110-58-6 |
|
|||
DL-Dopa |
|
63-84-3 |
|
|||
L-erythro-tetrahydrobiopterin |
|
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TH 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Th 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Th 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TH 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100488900 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | th 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006023 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | ple 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | cat-2 30 31 32 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1716 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639906 | Pathogenic/Likely Pathogenic: Dystonia; Segawa syndrome, autosomal recessive | 2,166,481(-) | TGCGAGAACTGC/T | FRAMESHIFT_VARIANT | |
640410 | Uncertain Significance: Dystonia; Segawa syndrome, autosomal recessive | 2,171,716(-) | T/C | MISSENSE_VARIANT | |
640633 | Uncertain Significance: Dystonia | 2,170,767(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
640660 | Uncertain Significance: Dystonia | 2,167,906(-) | G/A | MISSENSE_VARIANT | |
643112 | Uncertain Significance: Dystonia | 2,168,587(-) | A/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
segawa syndrome, autosomal recessive |
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dystonia |
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phenylketonuria |
|
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placental insufficiency |
|
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sudden infant death syndrome |
|