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Literature summary extracted from

  • Macias, I.; Lain, A.; Bernardo-Seisdedos, G.; Gil, D.; Gonzalez, E.; Falcon-Perez, J.M.; Millet, O.
    Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate (2019), J. Biol. Chem., 294, 13051-13060 .
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
3.7.1.2 A134D activity is less than 5% compared to wild-type activity Homo sapiens
3.7.1.2 A35T activity is about 15% compared to wild-type activity Homo sapiens
3.7.1.2 C193R no activity Homo sapiens
3.7.1.2 D233V activity is about 5% compared to wild-type activity Homo sapiens
3.7.1.2 F62C activity is about 20% compared to wild-type activity Homo sapiens
3.7.1.2 G158D no activity Homo sapiens
3.7.1.2 G207D activity is less than 10% compared to wild-type activity Homo sapiens
3.7.1.2 G337S activity is about 5% compared to wild-type activity Homo sapiens
3.7.1.2 G343W activity is about % compared to wild-type activity Homo sapiens
3.7.1.2 G369V activity is about % compared to wild-type activity Homo sapiens
3.7.1.2 N16I no activity Homo sapiens
3.7.1.2 P249T activity is about 10% compared to wild-type activity Homo sapiens
3.7.1.2 P261L activity is about 5% compared to wild-type activity Homo sapiens
3.7.1.2 P342L activity is about 95% compared to wild-type activity Homo sapiens
3.7.1.2 R381G activity is about % compared to wild-type activity Homo sapiens
3.7.1.2 T294P activity is about 45% compared to wild-type activity Homo sapiens
3.7.1.2 V166G activity is about 70% compared to wild-type activity Homo sapiens
3.7.1.2 W234G activity is about 10% compared to wild-type activity Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
3.7.1.2 0.0252
-
4-Fumarylacetoacetate pH 7.4, 22°C Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.7.1.2 4-fumarylacetoacetate + H2O Homo sapiens
-
acetoacetate + fumarate
-
?

Organic Solvent Stability

EC Number Organic Solvent Comment Organism
3.7.1.2 guanidine-HCl chemical denaturation using guanidinium chloride at a physiological temperature (37 °C) is reversible Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.7.1.2 Homo sapiens P16930
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
3.7.1.2
-
Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.7.1.2 4-fumarylacetoacetate + H2O
-
Homo sapiens acetoacetate + fumarate
-
?

Subunits

EC Number Subunits Comment Organism
3.7.1.2 dimer at physiological temperatures and concentrations, the wild-type enzyme (FAH) is in equilibrium between a catalytically active dimer and a monomeric species, with the latter being inactive and prone to oligomerization and aggregation Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
3.7.1.2 FAH
-
Homo sapiens

Temperature Stability [°C]

EC Number Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
3.7.1.2 48
-
dimer dissociates into the monomer, consistent with the irreversible aggregation observed Homo sapiens

Turnover Number [1/s]

EC Number Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
3.7.1.2 0.1
-
4-Fumarylacetoacetate pH 7.4, 22°C Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
3.7.1.2 7.4
-
assay at Homo sapiens

General Information

EC Number General Information Comment Organism
3.7.1.2 malfunction more than 100 mutations in the gene encoding fumarylacetoacetate hydrolase cause hereditary tyrosinemia type I, a metabolic disorder characterized by elevated blood levels of tyrosine Homo sapiens