Ribose-5-Phosphate Isomerase A (RPIA)

RPIA 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.Spencer and Hopkinson (1980) found that ribose 5-phosphate isomerase, an enzyme in the pentose-phosphate pathway, appears to be determined by a single structural locus and is probably a dimer. They detected no allelic variation in over 200 unrelated persons.The International Radiation Hybrid Mapping Consortium mapped the RPIA gene to chromosome 2.