AP5S1

The protein encoded by this gene is the small subunit of the AP5 adaptor complex.{{Cite journal |last1=Hirst |first1=Jennifer |last2=Irving |first2=Carol |last3=Borner |first3=Georg H. H. |date=2012-11-21 |title=Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia |journal=Traffic |volume=14 |issue=2 |pages=153–164 |doi=10.1111/tra.12028 |issn=1600-0854 |pmid=23167973 |s2cid=13766991 |doi-access=free }} 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.{{Cite journal |last1=Słabicki |first1=Mikołaj |last2=Theis |first2=Mirko |last3=Krastev |first3=Dragomir B. |last4=Samsonov |first4=Sergey |last5=Mundwiller |first5=Emeline |last6=Junqueira |first6=Magno |last7=Paszkowski-Rogacz |first7=Maciej |last8=Teyra |first8=Joan |last9=Heninger |first9=Anne-Kristin |last10=Poser |first10=Ina |last11=Prieur |first11=Fabienne |date=2010-06-29 |title=A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia |journal=PLOS Biology |volume=8 |issue=6 |pages=e1000408 |doi=10.1371/journal.pbio.1000408 |issn=1545-7885 |pmc=2893954 |pmid=20613862 |doi-access=free }}{{Cite journal |last1=Hirst |first1=Jennifer |last2=Madeo |first2=Marianna |last3=Smets |first3=Katrien |last4=Edgar |first4=James R. |last5=Schols |first5=Ludger |last6=Li |first6=Jun |last7=Yarrow |first7=Anna |last8=Deconinck |first8=Tine |last9=Baets |first9=Jonathan |last10=Van Aken |first10=Elisabeth |last11=De Bleecker |first11=Jan |date=2016-08-25 |title=Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) |journal=Neurology. Genetics |volume=2 |issue=5 |pages=e98 |doi=10.1212/NXG.0000000000000098 |issn=2376-7839 |pmc=5001803 |pmid=27606357}} 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{{Citation |last=Stevanin |first=Giovanni |title=Spastic Paraplegia 11 |date=1993 |url=http://www.ncbi.nlm.nih.gov/books/NBK1210/ |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=20301389 |access-date=2022-07-09 |editor2-last=Mirzaa |editor2-first=Ghayda M. |editor3-last=Pagon |editor3-first=Roberta A. |editor4-last=Wallace |editor4-first=Stephanie E. |archive-date=2022-01-22 |archive-url=https://web.archive.org/web/20220122024444/https://www.ncbi.nlm.nih.gov/books/NBK1210/ |url-status=live }} and ZFYVE26 with SPG15.{{Cite journal |last1=Hanein |first1=Sylvain |last2=Martin |first2=Elodie |last3=Boukhris |first3=Amir |last4=Byrne |first4=Paula |last5=Goizet |first5=Cyril |last6=Hamri |first6=Abdelmadjid |last7=Benomar |first7=Ali |last8=Lossos |first8=Alexander |last9=Denora |first9=Paola |last10=Fernandez |first10=José |last11=Elleuch |first11=Nizar |date=April 2008 |title=Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome |journal=American Journal of Human Genetics |volume=82 |issue=4 |pages=992–1002 |doi=10.1016/j.ajhg.2008.03.004 |issn=1537-6605 |pmc=2427184 |pmid=18394578}}

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