VPS53

This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008].

Mutations in VPS53 cause pontocerebellar hypoplasia type 2E, PCH2E ( also known as progressive cerebello-cerebral atrophy type 2, PCCA2).{{cite journal | vauthors = Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS | title = VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) | journal = Journal of Medical Genetics | volume = 51 | issue = 5 | pages = 303–8 | date = May 2014 | pmid = 24577744 | doi = 10.1136/jmedgenet-2013-101823 | s2cid = 8752023 }}

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• {{cite journal | vauthors = Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH | title = Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 | journal = American Journal of Human Genetics | volume = 72 | issue = 4 | pages = 918–30 | date = April 2003 | pmid = 12621583 | pmc = 1180354 | doi = 10.1086/374320 }}
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• {{cite journal | vauthors = Pérez-Victoria FJ, Bonifacino JS | title = Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network | journal = Molecular and Cellular Biology | volume = 29 | issue = 19 | pages = 5251–63 | date = October 2009 | pmid = 19620288 | pmc = 2747979 | doi = 10.1128/MCB.00495-09 }}
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• {{cite journal | vauthors = Liewen H, Meinhold-Heerlein I, Oliveira V, Schwarzenbacher R, Luo G, Wadle A, Jung M, Pfreundschuh M, Stenner-Liewen F | title = Characterization of the human GARP (Golgi associated retrograde protein) complex | journal = Experimental Cell Research | volume = 306 | issue = 1 | pages = 24–34 | date = May 2005 | pmid = 15878329 | doi = 10.1016/j.yexcr.2005.01.022 }}
• {{cite journal | vauthors = Zhao X, He M, Wan D, Ye Y, He Y, Han L, Guo M, Huang Y, Qin W, Wang MW, Chong W, Chen J, Zhang L, Yang N, Xu B, Wu M, Zuo L, Gu J | title = The minimum LOH region defined on chromosome 17p13.3 in human hepatocellular carcinoma with gene content analysis | journal = Cancer Letters | volume = 190 | issue = 2 | pages = 221–32 | date = February 2003 | pmid = 12565177 | doi = 10.1016/s0304-3835(02)00622-5 }}
• {{cite journal | vauthors = Pérez-Victoria FJ, Mardones GA, Bonifacino JS | title = Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes | journal = Molecular Biology of the Cell | volume = 19 | issue = 6 | pages = 2350–62 | date = June 2008 | pmid = 18367545 | pmc = 2397299 | doi = 10.1091/mbc.E07-11-1189 }}

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