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Literature summary for 1.1.1.26 extracted from

  • Cregeen, D.P.; Williams, E.L.; Hulton, S.; Rumsby, G.
    Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2 (2003), Hum. Mutat., 22, 497.
    View publication on PubMed

Application

Application Comment Organism
medicine identification of point mutations and minor deletions resulting in primary hyperoxaluria type 2 Homo sapiens

Protein Variants

Protein Variants Comment Organism
G165D mutation identified in patient with primary hyperoxaluria type 2, about 1.5% residual enzymic activity, enzyme is unstable upon purification Homo sapiens
additional information identification of point mutations and minor deletions resulting in primary hyperoxaluria type 2 Homo sapiens
R302C mutation identified in patient with primary hyperoxaluria type 2, about 5.6% residual enzymic activity, enzyme is unstable upon purification Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
patients with primary hyperoxaluria type 2
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
Homo sapiens
-