APOA1BP
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Apolipoprotein A-I-binding protein also known as APOA1BP is a protein that in humans is encoded by the APOA1BP gene.[1] 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).[2]
Structure
[edit | edit source]APOA1BP gene is located on chromosome 1, with its specific location being 1q22. The gene contains 6 exons,[3] 5 introns, and spans 2.5 kb.[1] Expression is ubiquitous across all human tissues, with highest observed in kidney, heart, liver, testis, thyroid gland, adrenal gland.[1] APOA1BP contains Yje_FN domain.[4]
Function
[edit | edit source]APOA1BP binds to APOA1, APOA2, and high-density lipoprotein (HDL).[1] In addition, APOA1BP appears to play a role in sperm capacitation.[5] It has been demonstrated that APOA1BP is involved in angiogenesis regulation, by accelerating cholesterol efflux from endothelial cells to HDL.[6][7] It is known that zebrafish APOA1BP ortholog Aibp is involved in angiogenesis regulation.[6] The protein was also shown to be involved in atherosclerosis protection.[7]
References
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