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NAXD and NAXE are repair enzymes responsible for the removal of the toxic metabolite NAD(P)HX
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Description
NAD(P)HX are redox inactive forms of the essential cofactors NAD(P)H which are formed under high stress environments and have been shown to inhibit a number of dehydrogenases and cause mitochondrial dysfunction. Normally they are removed by the repair enzymes NAD(P)HX Dehydratase (NAXD) and NAD(P)HX Epimerase (NAXE). However patients who have mutations in the these enzymes suffer from severe and aggressive courses of neurodegeneration.
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