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Literature summary extracted from

  • Johen, G.; Kowlessur, D.; Citron, B.A.; Kaufman, S.
    Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occuring mutants associated with hyperphenylalaninemia (1995), Proc. Natl. Acad. Sci. USA, 92, 12384-12388.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.2.1.96 the 18 amino acid-truncated mutant E87T cannot be overexpressed in Escherichia coli Homo sapiens
4.2.1.96 wild type and mutant enzyme C82R overexpressed in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.2.1.96 C82R mutant enzyme C82R reveals 60% decrease in Vmax and a slight decrease in Km-value for 4a-hydroxytetrahydrobiopterin. The susceptibility to proteolysis of mutant C82R, however is markedly increased compared with the wild type enzyme Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
4.2.1.96 0.0047
-
 4a-hydroxytetrahydrobiopterin mutant enzyme C82R Homo sapiens
4.2.1.96 0.0052
-
 4a-hydroxytetrahydrobiopterin wild type enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4.2.1.96 additional information Homo sapiens the mutant enzyme form C82R and the 18-amino acid-truncated mutant Glu87-termination occur naturally associated with hyperphenyalaninemia ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
4.2.1.96 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.2.1.96 4a-hydroxytetrahydrobiopterin
-
 Homo sapiens ?
-
 ?
4.2.1.96 additional information the mutant enzyme form C82R and the 18-amino acid-truncated mutant Glu87-termination occur naturally associated with hyperphenyalaninemia Homo sapiens ?
-
 ?