Apolipoprotein A-I-binding protein also known as APOA1BP is a protein that in humans is encoded by the APOA1BP gene. Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL-1), a rare, lethal, neurometabolic disorder, is caused by mutation in NAXE gene (APOA1BP being its former name).
Apolipoprotein A-I-binding protein also known as APOA1BP is a protein that in humans is encoded by the APOA1BP gene. Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL-1), a rare, lethal, neurometabolic disorder, is caused by mutation in NAXE gene (APOA1BP being its former name).
== Structure == APOA1BP gene is located on chromosome 1, with its specific location being 1q22. The gene contains 6 exons, 5 introns, and spans 2.5 kb. Expression is ubiquitous across all human tissues, with highest observed in kidney, heart, liver, testis, thyroid gland, adrenal gland. APOA1BP contains Yje_FN domain.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).