APOA1BP
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Apolipoprotein A-I-binding protein also known as APOA1BP is a protein that in humans is encoded by the APOA1BP gene.[5] 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).[6]
| NAXE | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | NAXE, AIBP, YJEFN1, APOA1BP, NAD(P)HX epimerase, PEBEL | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608862; MGI: 2180167; HomoloGene: 70948; GeneCards: NAXE; OMA:NAXE - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Structure
APOA1BP gene is located on chromosome 1, with its specific location being 1q22. The gene contains 6 exons,[7] 5 introns, and spans 2.5 kb.[5] Expression is ubiquitous across all human tissues, with highest observed in kidney, heart, liver, testis, thyroid gland, adrenal gland.[5] APOA1BP contains Yje_FN domain.[8]
Function
APOA1BP binds to APOA1, APOA2, and high-density lipoprotein (HDL).[5] In addition, APOA1BP appears to play a role in sperm capacitation.[9] It has been demonstrated that APOA1BP is involved in angiogenesis regulation, by accelerating cholesterol efflux from endothelial cells to HDL.[10][11] It is known that zebrafish APOA1BP ortholog Aibp is involved in angiogenesis regulation.[10] The protein was also shown to be involved in atherosclerosis protection.[11]
