Reaction: Defective RPIA does not isomerize R5P to RU5P
- in pathway: RPIA deficiency: failed conversion of R5P to RU5P
A missense mutant form of RPIA (ribose 5-phosphate isomerase) fails to catalyze the reversible isomerization of ribose 5-phosphate (R5P) to ribulose 5-phosphate (RU5P). This enzyme defect was associated with a slowly progressive leukencephalopathy in the one patient who has been studied (Huck et al. 2004).
Reaction - small molecule participants:
R5P [cytosol]
Reactome.org reaction link: R-HSA-5660015
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Reaction input - small molecules:
D-ribofuranose 5-phosphate(2-)
Reaction output - small molecules:
Reactome.org link: R-HSA-5660015