AP5Z1
| AP5Z1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AP5Z1, KIAA0415, SPG48, zeta, adaptor related protein complex 5 zeta 1 subunit, adaptor related protein complex 5 subunit zeta 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613653; MGI: 1924908; HomoloGene: 18213; GeneCards: AP5Z1; OMA:AP5Z1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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AP-5 complex subunit zeta (AP5Z1) is a protein that in humans is encoded by the AP5Z1 gene.[5]
Function
[edit]The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. Damaging variants in this gene are associated with SPG48, a type of hereditary spastic paraplegia.[6][7]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000242802 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039623 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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. PMC 3191125. PMID 22022230.
- ^ 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. doi:10.1371/journal.pbio.1000408. ISSN 1545-7885. PMC 2893954. PMID 20613862.
- ^ 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. doi:10.1212/NXG.0000000000000098. ISSN 2376-7839. PMC 5001803. PMID 27606357.
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