Transmembrane protein 230

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Transmembrane protein 230 is a protein that in humans is encoded by the TMEM230 gene.

Function

This 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].

Further reading

• 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 (February 2011). "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". Haematologica. 96 (2): 323–7. doi:10.3324/haematol.2010.031161. PMC 3031703. PMID 21048031.
• 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 (July 2016). "Identification of TMEM230 mutations in familial Parkinson's disease". Nat. Genet. 48 (7): 733–9. doi:10.1038/ng.3589. PMID 27270108.
• Yan W, Tang B, Zhou X, Lei L, Li K, Sun Q, Xu Q, Yan X, Guo J, Liu Z (January 2017). "TMEM230 mutation analysis in Parkinson's disease in a Chinese population". Neurobiol. Aging. 49: 219.e1–219.e3. doi:10.1016/j.neurobiolaging.2016.10.007. PMID 27814995.
• 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 (February 2017). "Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population". Neurobiol. Aging. 50: 167.e11–167.e13. doi:10.1016/j.neurobiolaging.2016.10.004. PMC 5812479. PMID 27818000.
• Kim MJ, Deng HX, Wong YC, Siddique T, Krainc D (February 2017). "The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking". Hum. Mol. Genet. 26 (4): 729–741. doi:10.1093/hmg/ddw413. PMID 28115417.
• Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C (August 2017). "TMEM230 in Parkinson's disease". Neurobiol. Aging. 56: 212.e1–212.e3. doi:10.1016/j.neurobiolaging.2017.03.014. PMID 28457580.
• Siedlak SL, Jiang Y, Huntley ML, Wang L, Gao J, Xie F, Liu J, Su B, Perry G, Wang X (2017). "TMEM230 Accumulation in Granulovacuolar Degeneration Bodies and Dystrophic Neurites of Alzheimer's Disease". J. Alzheimers Dis. 58 (4): 1027–1033. doi:10.3233/JAD-170190. PMID 28527219.
• Mandemakers W, Quadri M, Stamelou M, Bonifati V (August 2017). "TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?". Mov. Disord. 32 (8): 1159–1162. doi:10.1002/mds.27061. PMID 28568905.
• Ma D, Foo JN, Yulin Ng E, Zhao Y, Liu JJ, Tan EK (October 2017). "Screening for TMEM230 mutations in young-onset Parkinson's disease". Neurobiol. Aging. 58: 239.e9–239.e10. doi:10.1016/j.neurobiolaging.2017.06.011. PMID 28709721.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.