APOA1BP (Protein | Antibody | cDNA Clone | ELISA Kit)

All APOA1BP reagents are produced in house and quality controlled, including 30 APOA1BP Gene, 1 APOA1BP Lysate, 1 APOA1BP Protein, 1 APOA1BP qPCR. All APOA1BP reagents are ready to use.

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APOA1BP Background

APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites.Pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions.