Ribulose-5-Phosphate-3-Epimerase (RPE)

Spencer and Hopkinson (1980) found this enzyme (EC 5.1.3.1) of the pentose phosphate cycle in all human tissues. No evidence was found for more than one structural locus. No allelic variation was found in over 200 unrelated persons. The authors did find an electrophoretic difference between human and mouse RPE and suggested that gene mapping might be possible. Donald et al. (1982) assigned RPE to chromosome 2 by study of human-Chinese hamster hybrid cells. Gross et al. (1982) assigned RPE to the 2q32-2qter segment. Dallapiccola et al. (1988) reported that the RPE locus is situated in the subregion 2q32-q33.3. Miyazaki et al. (1988) corroborated the assignment of RPE to 2q32.1-q34 by demonstration of half-normal activity of the enzyme in a child with interstitial deletion of that segment.