功能： catalytic activity:D-ribose 5-phosphate = D-ribulose 5-phosphate.,disease:Defects in RPIA are the cause of ribose 5-phosphate isomerase deficiency [MIM:608611]. A patient has been described with a deficiency of ribose 5-phosphate isomerase who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed a highly elevated level of the polyols ribitol and D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPIA, one of the pentose phosphate pathway enzymes, has been demonstrated in fibroblasts.,pathway:Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.,similarity:Belongs to the ribose 5-phosphate isomerase family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytosol,integral component of membrane,intracellular membrane-bounded organelle,
功能： catalytic activity:D-ribose 5-phosphate = D-ribulose 5-phosphate.,disease:Defects in RPIA are the cause of ribose 5-phosphate isomerase deficiency [MIM:608611]. A patient has been described with a deficiency of ribose 5-phosphate isomerase who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed a highly elevated level of the polyols ribitol and D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPIA, one of the pentose phosphate pathway enzymes, has been demonstrated in fibroblasts.,pathway:Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.,similarity:Belongs to the ribose 5-phosphate isomerase family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytosol,integral component of membrane,intracellular membrane-bounded organelle,
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