Literature summary for 1.14.16.2 extracted from

Hole, M.; Underhaug, J.; Diez, H.; Ying, M.; R?hr, A.K.; Jorge-Finnigan, A.; Fernandez-Castillo, N.; Garcia-Cazorla, A.; Andersson, K.K.; Teigen, K.; Martinez, A.
Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms (2015), Biochim. Biophys. Acta, 1854, 1078-1089 .

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Protein Variants

Protein Variants	Comment	Organism
L205P	the mutation is associated with tyrosine hydroxylase deficiency	Homo sapiens
Q381K	the mutation is associated with tyrosine hydroxylase deficiency	Homo sapiens
R202H	the mutation is associated with tyrosine hydroxylase deficiency	Homo sapiens
R233H	the mutation is associated with tyrosine hydroxylase deficiency	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
L-tyrosine + tetrahydrobiopterin + O2	Homo sapiens	-	L-dopa + 4a-hydroxytetrahydrobiopterin + H2O	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
L-tyrosine + tetrahydrobiopterin + O2	-	Homo sapiens	L-dopa + 4a-hydroxytetrahydrobiopterin + H2O	-	?

Synonyms

Synonyms	Comment	Organism
TH1	isoform	Homo sapiens
tyrosine hydroxylase	-	Homo sapiens

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Release 2023.1 (January 2023)