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Description for Protein TH

tyrosine hydroxylase
14 total interacting proteins; 10 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.14.16.2
KEGG - Orthology:
K00501
KEGG - Pathway(s):
hsa00350; hsa01100; hsa05012
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Tyrosine 3-monooxygenase; Tyrosine 3-hydroxylase; TYH; Tyrosine hydroxylase isoform b; Tyrosine hydroxylase isoform c; Tyrosine hydroxylase isoform a
Approved Symbol:
TH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 12
Human (de-) phosphorylation sites: 12; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • 7,8-dihydrobiopterin(db);
  • L-Phenylalanine(db);
  • L-Tyrosine(db);
  • Meta-Tyrosine(db);
  • Metyrosine(db);
  • Tetrahydrobiopterin(db)

    Associated Genetic Diseases:

  • Extrapyramidal movement disorder(Pd);
  • Segawa syndrome, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01865 Entrez Gene ID: 7054 OMIM ID: 191290 Swissprot Accession: P07101; P78428;