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Literature summary for 4.1.3.16 extracted from

  • Mdimegh, S.; Aquaviva-Bourdain, C.; Omezzine, A.; Souche, G.; Mbarek, I.; Abidi, K.; Gargah, T.; Abroug, S.; Bouslama, A.
    HOGA1 gene mutations of primary hyperoxaluria type 3 in tunisian patients (2017), J. Clin. Lab. Anal., 31, e22053 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 4.1.3.16

Protein Variants

Protein Variants Comment Organism
G287V the mutation is associated with primary hyperoxaluria type 3 Homo sapiens
P190L the mutation is associated with primary hyperoxaluria type 3 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4-Hydroxy-2-oxoglutarate Homo sapiens
-
 Pyruvate + glyoxylate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-Hydroxy-2-oxoglutarate
-
 Homo sapiens Pyruvate + glyoxylate
-
 ?

Synonyms

Synonyms Comment Organism
HOGA1
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction primary hyperoxaluria type 3 is due to mutations in the 4-hydroxy-2-oxoglutarate aldolase gene Homo sapiens