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Literature summary for 3.7.1.2 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
Search for more literature for 3.7.1.2

Protein Variants

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

KM Value [mM]

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

Natural Substrates/ Products (Substrates)

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

Organic Solvent Stability

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

Organism

Organism UniProt Comment Textmining
Homo sapiens P16930
-
-

Purification (Commentary)

Purification (Comment) Organism
-
 Homo sapiens

Substrates and Products (Substrate)

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

Subunits

Subunits Comment Organism
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

Synonyms Comment Organism
FAH
-
 Homo sapiens

Temperature Stability [°C]

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

Turnover Number [1/s]

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

pH Optimum

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

General Information

General Information Comment Organism
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