Defective RPIA does not isomerize RU5P to R5P

Stable Identifier
R-HSA-5660013
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

A missense mutant form of RPIA (ribose 5-phosphate isomerase) fails to catalyze the reversible isomerization of ribulose 5-phosphate (RU5P) to ribose 5-phosphate (R5P). This enzyme defect was associated with a slowly progressive leukencephalopathy in the one patient who has been studied (Huck et al. 2004).

Literature References
PubMed ID Title Journal Year
14988808 Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy

Huck, JHJ, Verhoeven, NM, Struys, EA, Salomons, GS, Jakobs, C, van der Knaap, MS

Am J Hum Genet 2004
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
ribose-5-phosphate isomerase activity of RPIA A61V [cytosol]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder 2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Authored
Reviewed
Created
Cite Us!