HGNC Approved Gene Symbol: RPE
Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:210,002,638-210,022,260 (from NCBI)
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.
Donald et al. (1982, 1982) assigned the RPE gene to chromosome 2 by study of human-Chinese hamster hybrid cells. Gross et al. (1982) assigned RPE to the 2q32-2qter segment. By studies of dosage effect in a new case of interstitial deletion of 2q, 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.
Dallapiccola, B., Novelli, G., Giannotti, A. Deletion 2q31.3-2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase. Hum. Genet. 79: 92 only, 1988. [PubMed: 3366467] [Full Text: https://doi.org/10.1007/BF00291721]
Donald, L. J., Wang, H. S., Hamerton, J. L. Assignment of the gene for ribulose-5-phosphate 3-epimerase (RPE) to human chromosome 2. (Abstract) Cytogenet. Cell Genet. 32: 268 only, 1982.
Donald, L. J., Wang, H. S., Hamerton, J. L. A ribulose-5-phosphate-3-epimerase (RPE) locus is on human chromosome 2. Cytogenet. Cell Genet. 33: 261-263, 1982. [PubMed: 6957283] [Full Text: https://doi.org/10.1159/000131764]
Gross, M.-S., Weil, D., Van Cong, N., Finaz, C., Foubert, C., Cochet, C., Parisi, I., de Grouchy, J., Frezal, J. Localisation du gene de la ribulose-5-phosphate-3-epimerase (RPE) sur le segment 2q32-2qter par hybridation cellulaire interspecifique. Ann. Genet. 25: 87-91, 1982. [PubMed: 6984632]
Miyazaki, K., Yamanaka, T., Ogasawara, N. Interstitial deletion 2q32.1-q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE). J. Med. Genet. 25: 850-851, 1988. [PubMed: 3236368] [Full Text: https://doi.org/10.1136/jmg.25.12.850]
Spencer, N., Hopkinson, D. A. Biochemical genetics of the pentose phosphate cycle: human ribose 5-phosphate isomerase (RPI) and ribulose 5-phosphate 3-epimerase (RPE). Ann. Hum. Genet. 43: 335-342, 1980. [PubMed: 7396409] [Full Text: https://doi.org/10.1111/j.1469-1809.1980.tb01567.x]