From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
AP-5 complex subunit zeta (AP5Z1) is a
protein that in humans is encoded by the AP5Z1
gene.
[5]
Function
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
- ^
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.