RPIA
Function
Catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate and participates in the first step of the non-oxidative branch of the pentose phosphate pathway.
Involvement in disease
Ribose 5-phosphate isomerase deficiency
RPIAD
An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.
Sequence Similarities
Belongs to the ribose 5-phosphate isomerase family.
Alternative names
RPI, RPIA, Ribose-5-phosphate isomerase, Phosphoriboisomerase