TMEM230

TMEM230
Identifiers
Aliases	TMEM230, C20orf30, HSPC274, dJ1116H23.2.1, transmembrane protein 230
External IDs	OMIM: 617019 MGI: 1917862 HomoloGene: 8561 GeneCards: TMEM230
Gene location (Human)
Chr.	Chromosome 20 (human)
End	5,113,103 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	132,089,727 bp
RNA expression pattern
	Top expressed in
	gallbladder; ; smooth muscle tissue; ; substantia nigra; ; left adrenal gland; ; islet of Langerhans; ; hypothalamus; ; endometrium; ; rectum; ; right coronary artery; ; anterior pituitary;
	Top expressed in
	spermatocyte; ; secondary oocyte; ; spermatid; ; yolk sac; ; skeletal muscle tissue; ; quadriceps femoris muscle; ; testicle; ; adrenal gland; ; proximal tubule; ; cerebellum;
	More reference expression data
	n/a
Orthologs
	29058
	70612
	ENSG00000089063
	ENSMUSG00000027341
	Q96A57
	Q8CIB6
NM_001009923; NM_001009924; NM_001009925; NM_014145; NM_001330984;
	NM_001330985; NM_001330986; NM_001330987
	NM_001141971; NM_027478
NP_001009923; NP_001009924; NP_001009925; NP_001317913; NP_001317914;
	NP_001317915; NP_001317916; NP_054864
	NP_001135443; NP_081754
	Wikidata
View/Edit Human	View/Edit Mouse

TMEM230 or transmembrane protein 230 is a protein that in humans is encoded by the TMEM230 gene. ^[5]

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 on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000089063 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027341 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Transmembrane protein 230". Retrieved 2018-07-18.

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