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6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene.
Gene Name: | phosphogluconate dehydrogenase |
Synonyms: | PGD, 6PGD, PGDH, Phosphogluconate dehydrogenase |
Target Sequences: | NM_002631 NP_002622.2 P52209 |
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