Cloned (Comment) | Organism |
---|---|
genotyping | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O14841 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
5-oxoprolinase | - |
Homo sapiens |
OPLAH | - |
Homo sapiens |
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 |