NAXE
Description
The NAXE (NAD(P)HX epimerase) is a protein-coding gene located on chromosome 1.
NAXE, formerly known as APOA1BP, is a human gene that encodes a protein involved in a rare, lethal, neurometabolic disorder called Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL-1). Mutations in the NAXE gene cause PEBEL-1. The gene is located on chromosome 1 and spans 2.5 kb. NAXE expression is ubiquitous across all human tissues, with the highest expression observed in the kidney, heart, liver, testis, thyroid gland, and adrenal gland. The protein contains a Yje_FN domain and binds to APOA1, APOA2, and high-density lipoprotein (HDL). NAXE is also involved in sperm capacitation and angiogenesis regulation by accelerating cholesterol efflux from endothelial cells to HDL. Its zebrafish ortholog, Aibp, is also involved in angiogenesis regulation.
NAXE is also known as AIBP, APOA1BP, PEBEL, YJEFN1.
