KNOWPIA
WELCOME TO KNOWPIA
TMEM230 
Summary
TMEM230 or transmembrane protein 230 is a protein that in humans is encoded by the TMEM230 gene. [5]
| TMEM230 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TMEM230, C20orf30, HSPC274, dJ1116H23.2.1, transmembrane protein 230 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 617019 MGI: 1917862 HomoloGene: 8561 GeneCards: TMEM230 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Function edit
This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicles in the neuron and may be involved in synaptic vesicle trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease.
References edit
- ^ a b c GRCh38: Ensembl release 89: ENSG00000089063 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027341 – 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.
- ^ "Entrez Gene: Transmembrane protein 230". Retrieved 2018-07-18.
Further reading edit
- 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. PMC 6047531. 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. S2CID 3896849.
- 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. PMC 6251589. 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. PMC 5526081. 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. Alzheimer's 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. S2CID 13931932.
- 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. S2CID 21503418.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.