Biology:AP5B1
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[5] and ZFYVE26 with SPG15.[6]
GnomAD reports an observed v. expected ratio of predicted Loss-of-Function variants of 0.84 (0.58 - 1.24) for AP5B1.[1][2]
References
- ↑ 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. doi:10.1371/journal.pbio.1001170. ISSN 1545-7885. PMID 22022230.
- ↑ 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 (Copenhagen, Denmark) 14 (2): 153–164. doi:10.1111/tra.12028. ISSN 1600-0854. PMID 23167973. https://pubmed.ncbi.nlm.nih.gov/23167973/. Retrieved 2022-07-09.
- ↑ Słabicki, Mikołaj; Theis, Mirko; Krastev, Dragomir B.; Samsonov, Sergey; Mundwiller, Emeline; Junqueira, Magno; Paszkowski-Rogacz, Maciej; Teyra, Joan et al. (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. doi:10.1371/journal.pbio.1000408. ISSN 1545-7885. PMID 20613862.
- ↑ Hirst, Jennifer; Madeo, Marianna; Smets, Katrien; Edgar, James R.; Schols, Ludger; Li, Jun; Yarrow, Anna; Deconinck, Tine et al. (2016-08-25). "Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)". Neurology. Genetics 2 (5): e98. doi:10.1212/NXG.0000000000000098. ISSN 2376-7839. PMID 27606357.
- ↑ Stevanin, Giovanni (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A. et al., eds., "Spastic Paraplegia 11", GeneReviews® (Seattle (WA): University of Washington, Seattle), PMID 20301389, http://www.ncbi.nlm.nih.gov/books/NBK1210/, retrieved 2022-07-09
- ↑ Hanein, Sylvain; Martin, Elodie; Boukhris, Amir; Byrne, Paula; Goizet, Cyril; Hamri, Abdelmadjid; Benomar, Ali; Lossos, Alexander et al. (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. doi:10.1016/j.ajhg.2008.03.004. ISSN 1537-6605. PMID 18394578.
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