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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.
Gene Name: | Ribose 5-phosphate Isomerase A |
Synonyms: | RPIA, RPI, Ribose 5-phosphate isomerase A, Phosphoriboisomerase, Ribose 5-phosphate epimerase, Ribose-5-phosphate isomerase |
Target Sequences: | NM_144563 NP_653164.2 P49247 |
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