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MGP003126

UniProt Annotations

Entry Information
Gene Nametyrosine hydroxylase
Protein EntryTY3H_HUMAN
UniProt IDP07101
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Comment=TH transcripts lacking exons 8 and 9 present concomitant splicing in exons 1b and 2.; Name=3; Synonyms=TH type 4; IsoId=P07101-1; Sequence=Displayed; Name=1; Synonyms=TH type 3; IsoId=P07101-2; Sequence=VSP_000543; Name=2; Synonyms=HTH-1, hTH-Delta1b,2, TH type 1; IsoId=P07101-3; Sequence=VSP_000544; Name=4; Synonyms=hTH-Delta2, TH type 2; IsoId=P07101-4; Sequence=VSP_000541; Name=5; Synonyms=hTH-Delta2,8,9; IsoId=P07101-5; Sequence=VSP_000541, VSP_054338; Note=Lacks catalytic activity.; Name=6; Synonyms=hTH-Delta1b,2,8,9; IsoId=P07101-6; Sequence=VSP_000544, VSP_054338; Note=Lacks catalytic activity.;
Catalytic ActivityL-tyrosine + tetrahydrobiopterin + O(2) = L- dopa + 4a-hydroxytetrahydrobiopterin.
CofactorName=Fe(2+); Xref=ChEBI:CHEBI:29033;
DiseaseNote=May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls. {ECO:0000269|PubMed:20809526}.
DiseaseSegawa syndrome autosomal recessive (ARSEGS) [MIM:605407]: A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA. {ECO:0000269|PubMed:11246459, ECO:0000269|PubMed:21940685, ECO:0000269|PubMed:22264700, ECO:0000269|PubMed:22815559, ECO:0000269|PubMed:7814018, ECO:0000269|PubMed:9613851, ECO:0000269|PubMed:9703425}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationPhosphorylation leads to an increase in the catalytic activity.
FunctionPlays an important role in the physiology of adrenergic neurons.
PathwayCatecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2.
Sequence CautionSequence=AAA61173.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the biopterin-dependent aromatic amino acid hydroxylase family. {ECO:0000305}.
Tissue SpecificityMainly expressed in the brain and adrenal glands.
Web ResourceName=Wikipedia; Note=Tyrosine hydroxylase entry; URL="http://en.wikipedia.org/wiki/Tyrosine_hydroxylase";
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