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Three glucose 6-phosphate dehydrogenase variants found in Japan

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Summary

Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD ‘Mediterranean-like’ had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased heat stability and slightly biphasic pH curve. G6PD ‘Ogori’ had markedly decreased activity, but otherwise normal characteristics. G6PD ‘Hofu’ had moderately decreased activity, normal electrophoretic mobility, slightly reduced Km G6P, normal Km NADP, normal utilization of 2-deoxy-G6P and Gal-6P, but increased utilization of deamino-NADP and normal heat stability as well as normal pH curve.

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Miwa, S., Nakashima, K., Ono, J. et al. Three glucose 6-phosphate dehydrogenase variants found in Japan. Hum Genet 36, 327–334 (1977). https://doi.org/10.1007/BF00446284

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