Gene Review:
PRPS1 - phosphoribosyl pyrophosphate synthetase 1
Homo sapiens
Synonyms:
ARTS, CMTX5, DFN2, DFNX1, PPRibP, ...
- X-linkage does not account for the absence of father-son similarity in plasma uric acid concentrations. Reed, D.R., Price, R.A. Am. J. Med. Genet. (2000)
- Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Kim, H.J., Sohn, K.M., Shy, M.E., Krajewski, K.M., Hwang, M., Park, J.H., Jang, S.Y., Won, H.H., Choi, B.O., Hong, S.H., Kim, B.J., Suh, Y.L., Ki, C.S., Lee, S.Y., Kim, S.H., Kim, J.W. Am. J. Hum. Genet. (2007)
- The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. Becker, M.A., Smith, P.R., Taylor, W., Mustafi, R., Switzer, R.L. J. Clin. Invest. (1995)
- Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. Ahmed, M., Taylor, W., Smith, P.R., Becker, M.A. J. Biol. Chem. (1999)
- Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. Becker, M.A., Taylor, W., Smith, P.R., Ahmed, M. J. Biol. Chem. (1996)
- Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes. Becker, M.A., Heidler, S.A., Bell, G.I., Seino, S., Le Beau, M.M., Westbrook, C.A., Neuman, W., Shapiro, L.J., Mohandas, T.K., Roessler, B.J. Genomics (1990)
- Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes. Taira, M., Kudoh, J., Minoshima, S., Iizasa, T., Shimada, H., Shimizu, Y., Tatibana, M., Shimizu, N. Somat. Cell Mol. Genet. (1989)
- Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms. Ishizuka, T., Iizasa, T., Taira, M., Ishijima, S., Sonoda, T., Shimada, H., Nagatake, N., Tatibana, M. Biochim. Biophys. Acta (1992)
- Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript. Taira, M., Iizasa, T., Yamada, K., Shimada, H., Tatibana, M. Biochim. Biophys. Acta (1989)
- Effect of treatment on erythrocyte phosphoribosyl pyrophosphate synthetase and glutathione reductase activity in patients with primary gout. Braven, J., Hardwell, T.R., Hickling, P., Whittaker, M. Ann. Rheum. Dis. (1986)
- Purines as 'hyper-repressors' of glucose transport. A role for phosphoribosyl diphosphate. Gay, R.J., Amos, H. Biochem. J. (1983)
- Overexpression, purification, and characterization of recombinant human 5-phosphoribosyl-1-pyrophosphate synthetase isozymes I and II. Nosal, J.M., Switzer, R.L., Becker, M.A. J. Biol. Chem. (1993)
- Enzymes of purine and pyrimidine metabolism from the human malaria parasite, Plasmodium falciparum. Reyes, P., Rathod, P.K., Sanchez, D.J., Mrema, J.E., Rieckmann, K.H., Heidrich, H.G. Mol. Biochem. Parasitol. (1982)
- Expression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1). Tang, W., Li, X., Zhu, Z., Tong, S., Li, X., Zhang, X., Teng, M., Niu, L. Acta Crystallograph. Sect. F Struct. Biol. Cryst. Commun. (2006)
- Disorders associated with purine and pyrimidine metabolism. Edwards, N.L., Fox, I.H. Special topics in endocrinology and metabolism. (1984)
- Molecular cloning and sequencing of human cDNA for phosphoribosyl pyrophosphate synthetase subunit II. Iizasa, T., Taira, M., Shimada, H., Ishijima, S., Tatibana, M. FEBS Lett. (1989)