Biology:AP5M1
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Short description: Protein-coding gene in the species Homo sapiens
AP-5 complex subunit mu (AP5M1) is a protein that in humans is encoded by the AP5M1 gene.[1]
Function
The protein encoded by this gene is the medium-sized subunit 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 one of the large subunits 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 (disease).[6]
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/.
- ↑ 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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