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Literature summary for 4.1.3.16 extracted from

  • Williams, E.L.; Bockenhauer, D.; vant Hoff, W.G.; Johri, N.; Laing, C.; Sinha, M.D.; Unwin, R.; Viljoen, A.; Rumsby, G.
    The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3 (2012), Nephrol. Dial. Transplant., 27, 3191-3195.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
genotyping in 28 patients with type 3 atypical primary hyperoxaluria, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
Y39X/R70X naturally occuring mutations in a patient with type 3 atypical primary hyperoxaluria 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 Q86XE5
-
-

Source Tissue

Source Tissue Comment Organism Textmining
kidney
-
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 enzyme deficiency leads to primary hyperoxaluria type 3 Homo sapiens