RPIA

The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

Full Name

Ribose 5-Phosphate Isomerase A

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.

Biological Process

Biological Process D-ribose metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Biological Process pentose-phosphate shuntTAS:Reactome
Biological Process pentose-phosphate shunt, non-oxidative branchManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ribose phosphate metabolic processIEA:Ensembl

Cellular Location

cytosol
intracellular membrane-bounded organelle

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.