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Literature summary extracted from

  • Riedel, T.J.; Knight, J.; Murray, M.S.; Milliner, D.S.; Holmes, R.P.; Lowther, W.T.
    4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition (2012), Biochim. Biophys. Acta, 1822, 1544-1552.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
4.1.3.16 medicine mutations in the gene encoding for 4-hydroxy-2-oxoglutarate aldolase are associated with an excessive production of oxalate in Primary Hyperoxaluria type 3, PH3. Analysis of nine PH3 human variants reveals that all nine PH3 variants are quite unstable, have a tendency to aggregate, and retain no measurable activity. A buildup of 4-hydroxy-2-oxoglutarate takes place in the urine, sera and liver samples from PH3 patients. One hypothetical component of the molecular basis for the excessive oxalate production in PH3 appears to be the inhibition of glyoxylate reductase by 4-hydroxy-2-oxoglutarate, resulting in a phenotype similar to Primary Hyperoxaluria type 2 Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.1.3.16 expression in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.1.3.16 C257G natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 DeltaE315 natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 G287V natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 P190L natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 R255X a truncation of 71 residues from the C-terminus associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 R303C natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 R70P natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 R97C natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens
4.1.3.16 T280I natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity Homo sapiens

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
4.1.3.16 35249
-
 4 * 35249, calculated Homo sapiens
4.1.3.16 131500
-
 gel filtration Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
4.1.3.16 Homo sapiens Q86XE5
-
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
4.1.3.16 15.8
-
 pH 8.5, 37°C Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.1.3.16 4-Hydroxy-2-oxoglutarate
-
 Homo sapiens Pyruvate + glyoxylate
-
 r

Subunits

EC Number Subunits Comment Organism
4.1.3.16 tetramer 4 * 35249, calculated Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
4.1.3.16 hOGA
-
 Homo sapiens