| 释义 |
- Function
- References
- Further reading
{{Infobox_gene}}Transmembrane protein 230 is a protein that in humans is encoded by the TMEM230 gene. [1]FunctionThis gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]. References 1. ^{{cite web| title = Entrez Gene: Transmembrane protein 230| url = https://www.ncbi.nlm.nih.gov/gene/29058| accessdate = 2018-07-18}}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Casabonne D, Reina O, Benavente Y, Becker N, Maynadié M, Foretová L, Cocco P, González-Neira A, Nieters A, Boffetta P, Middeldorp JM, de Sanjose S |title=Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph |journal=Haematologica |volume=96 |issue=2 |pages=323–7 |date=February 2011 |pmid=21048031 |pmc=3031703 |doi=10.3324/haematol.2010.031161 |url=}}
- {{cite journal |vauthors=Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O, Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T |title=Identification of TMEM230 mutations in familial Parkinson's disease |journal=Nat. Genet. |volume=48 |issue=7 |pages=733–9 |date=July 2016 |pmid=27270108 |doi=10.1038/ng.3589 |url=}}
- {{cite journal |vauthors=Yan W, Tang B, Zhou X, Lei L, Li K, Sun Q, Xu Q, Yan X, Guo J, Liu Z |title=TMEM230 mutation analysis in Parkinson's disease in a Chinese population |journal=Neurobiol. Aging |volume=49 |issue= |pages=219.e1–219.e3 |date=January 2017 |pmid=27814995 |doi=10.1016/j.neurobiolaging.2016.10.007 |url=}}
- {{cite journal |vauthors=Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, Lesage S, Bras JM, Shulman JM, Sheerin UM, Díez-Fairen M, Pastor P, Martí MJ, Ezquerra M, Tolosa E, Correia-Guedes L, Ferreira J, Amin N, van Duijn CM, van Rooij J, Uitterlinden AG, Kraaij R, Nalls M, Simón-Sánchez J |title=Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population |journal=Neurobiol. Aging |volume=50 |issue= |pages=167.e11–167.e13 |date=February 2017 |pmid=27818000 |pmc=5812479 |doi=10.1016/j.neurobiolaging.2016.10.004 |url=}}
- {{cite journal |vauthors=Kim MJ, Deng HX, Wong YC, Siddique T, Krainc D |title=The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking |journal=Hum. Mol. Genet. |volume=26 |issue=4 |pages=729–741 |date=February 2017 |pmid=28115417 |doi=10.1093/hmg/ddw413 |url=}}
- {{cite journal |vauthors=Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C |title=TMEM230 in Parkinson's disease |journal=Neurobiol. Aging |volume=56 |issue= |pages=212.e1–212.e3 |date=August 2017 |pmid=28457580 |doi=10.1016/j.neurobiolaging.2017.03.014 |url=}}
- {{cite journal |vauthors=Siedlak SL, Jiang Y, Huntley ML, Wang L, Gao J, Xie F, Liu J, Su B, Perry G, Wang X |title=TMEM230 Accumulation in Granulovacuolar Degeneration Bodies and Dystrophic Neurites of Alzheimer's Disease |journal=J. Alzheimer's Dis. |volume=58 |issue=4 |pages=1027–1033 |date=2017 |pmid=28527219 |doi=10.3233/JAD-170190 |url=}}
- {{cite journal |vauthors=Mandemakers W, Quadri M, Stamelou M, Bonifati V |title=TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease? |journal=Mov. Disord. |volume=32 |issue=8 |pages=1159–1162 |date=August 2017 |pmid=28568905 |doi=10.1002/mds.27061 |url=}}
- {{cite journal |vauthors=Ma D, Foo JN, Yulin Ng E, Zhao Y, Liu JJ, Tan EK |title=Screening for TMEM230 mutations in young-onset Parkinson's disease |journal=Neurobiol. Aging |volume=58 |issue= |pages=239.e9–239.e10 |date=October 2017 |pmid=28709721 |doi=10.1016/j.neurobiolaging.2017.06.011 |url=}}
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