AP5B1 explained

AP-5 complex subunit beta (AP5B1) is a protein that in humans is encoded by the AP5B1 gene.^[1]

Function

The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex.^[2] Variants in this gene have not been implicated in any disease but damaging variants in AP5Z1, the gene encoding the other large subunit in this complex, are associated with SPG48, a type of hereditary spastic paraplegia.^{[3] [4]} In addition, damaging variants in the genes encoding two proteins that stably associate with the AP-5 adaptor complex are also associated with forms of hereditary spastic paraplegia - SPG11 with the disease of the same name and ZFYVE26 with SPG15.^[5]

GnomAD reports an observed v. expected ratio of predicted loss-of-function variants of 0.84 (0.58 - 1.24) for AP5B1.^{[6] [7]}

References

1. Hirst . Jennifer . Barlow . Lael D. . Francisco . Gabriel Casey . Sahlender . Daniela A. . Seaman . Matthew N. J. . Dacks . Joel B. . Robinson . Margaret S. . 2011-10-11 . The fifth adaptor protein complex . PLOS Biology . 9 . 10 . e1001170 . 10.1371/journal.pbio.1001170 . 1545-7885 . 3191125 . 22022230 . free .
2. Hirst . Jennifer . Irving . Carol . Borner . Georg H. H. . 2012-11-21 . Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia . Traffic . 14 . 2 . 153–164 . 10.1111/tra.12028 . 1600-0854 . 23167973 . 13766991 . free .
3. Słabicki . Mikołaj . Theis . Mirko . Krastev . Dragomir B. . Samsonov . Sergey . Mundwiller . Emeline . Junqueira . Magno . Paszkowski-Rogacz . Maciej . Teyra . Joan . Heninger . Anne-Kristin . Poser . Ina . Prieur . Fabienne . 2010-06-29 . A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia . PLOS Biology . 8 . 6 . e1000408 . 10.1371/journal.pbio.1000408 . 1545-7885 . 2893954 . 20613862 . free .
4. Hirst . Jennifer . Madeo . Marianna . Smets . Katrien . Edgar . James R. . Schols . Ludger . Li . Jun . Yarrow . Anna . Deconinck . Tine . Baets . Jonathan . Van Aken . Elisabeth . De Bleecker . Jan . 2016-08-25 . Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) . Neurology. Genetics . 2 . 5 . e98 . 10.1212/NXG.0000000000000098 . 2376-7839 . 5001803 . 27606357.
5. Hanein . Sylvain . Martin . Elodie . Boukhris . Amir . Byrne . Paula . Goizet . Cyril . Hamri . Abdelmadjid . Benomar . Ali . Lossos . Alexander . Denora . Paola . Fernandez . José . Elleuch . Nizar . April 2008 . Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome . American Journal of Human Genetics . 82 . 4 . 992–1002 . 10.1016/j.ajhg.2008.03.004 . 1537-6605 . 2427184 . 18394578.
6. Web site: GnomAD .
7. Web site: Loss-of-Function Curations in gnomAD | gnomAD browser .