Cat. No. | Product Name | Species | Expression System |
---|---|---|---|
TMPY-00320 |
APOA1BP Protein, Human, Recombinant (His)
YJEFN1,apolipoprotein A-I binding protein,AIBP |
Human | HEK293 Cells |
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. |