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Literature summary for 3.5.2.9 extracted from

  • Calpena, E.; Deshpande, A.A.; Yap, S.; Kumar, A.; Manning, N.J.; Bachhawat, A.K.; Espinos, C.
    New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition (2015), Eur. J. Pediatr., 174, 407-411.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
D1241V naturally occuring mutation, leading to 5-oxoprolinase deficiency Homo sapiens
G860R naturally occuring mutation, leading to 5-oxoprolinase deficiency Homo sapiens
additional information in a yeast in vivo growth assay mutations S323R, G860R, and D1241V affect the activity of the enzyme Homo sapiens
S323R naturally occuring mutation, leading to 5-oxoprolinase deficiency Homo sapiens
V1089I naturally occuring mutation, not involved into 5-oxoprolinase deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O14841
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-

Synonyms

Synonyms Comment Organism
5-oxoprolinase
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Homo sapiens
OPLAH
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Homo sapiens

General Information

General Information Comment Organism
malfunction inherited 5-oxoprolinase deficiency is a rare inborn condition characterised by 5-oxoprolinuria. Three enzyme mutations are involved: p.H870Pfs in a homozygous state, which results in a truncated protein, and two heterozygous missense changes, S323R and V1089I Homo sapiens