TMEM43 explained

Transmembrane protein 43 (also called luma) is a protein that in humans is encoded by the TMEM43 gene.^[1] TMEM43 may have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane. However, the localization of TMEM43 in myocardial tissue is controversial discussed. Franke et al. demonstrated that TMEM43 is localized at the intercalated disc but not at the nuclear envelope.^[2] In contrast Christensen et al. have shown that TMEM43 is mainly localized at the sarcolemma.^[3] Mutations in TMEM43 are associated with ARVD^{[4] [5] [6] [7]} and EDMD7.^[8]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3.
• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination . Genome Research . 10 . 11 . 1788–95 . November 2000 . 11076863 . 310948 . 10.1101/gr.143000.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . EMBO Reports . 1 . 3 . 287–92 . September 2000 . 11256614 . 1083732 . 10.1093/embo-reports/kvd058.
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proceedings of the National Academy of Sciences of the United States of America . 99 . 26 . 16899–903 . December 2002 . 12477932 . 139241 . 10.1073/pnas.242603899. 2002PNAS...9916899M . free .
• Clark HF, Gurney AL, Abaya E, etal . The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment . Genome Research . 13 . 10 . 2265–70 . October 2003 . 12975309 . 403697 . 10.1101/gr.1293003.
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nature Genetics . 36 . 1 . 40–5 . January 2004 . 14702039 . 10.1038/ng1285. free .
• Wiemann S, Arlt D, Huber W, etal . From ORFeome to biology: a functional genomics pipeline . Genome Research . 14 . 10B . 2136–44 . October 2004 . 15489336 . 528930 . 10.1101/gr.2576704.
• Otsuki T, Ota T, Nishikawa T, etal . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Research . 12 . 2 . 117–26 . 2005 . 16303743 . 10.1093/dnares/12.2.117. free .
• Mehrle A, Rosenfelder H, Schupp I, etal . The LIFEdb database in 2006 . Nucleic Acids Research . 34 . Database issue . D415–8 . January 2006 . 16381901 . 1347501 . 10.1093/nar/gkj139.

External links

• GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
• OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

Notes and References

1. Wiemann S, Weil B, Wellenreuther R, etal . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs . Genome Research . 11 . 3 . 422–35 . March 2001 . 11230166 . 311072 . 10.1101/gr.GR1547R.
2. Franke WW, Dörflinger Y, Kuhn C, etal . Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology . Cell and Tissue Research . 357 . 1 . 159–72 . July 2014 . 24770932 . 10.1007/s00441-014-1865-1. 18099395 .
3. Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH . Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy . Clinical Genetics . 80 . 3 . 256–64 . September 2011 . 21214875 . 10.1111/j.1399-0004.2011.01623.x. 5617616 .
4. Merner ND, Hodgkinson KA, Haywood AF, etal . Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene . American Journal of Human Genetics . 82 . 4 . 809–21 . April 2008 . 18313022 . 2427209 . 10.1016/j.ajhg.2008.01.010.
5. Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH . Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy . Clinical Genetics . 80 . 3 . 256–64 . September 2011 . 21214875 . 10.1111/j.1399-0004.2011.01623.x. 5617616 .
6. Haywood AF, Merner ND, Hodgkinson KA, etal . Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada . European Heart Journal . 34 . 13 . 1002–11 . April 2013 . 23161701 . 10.1093/eurheartj/ehs383. free .
7. Baskin B, Skinner JR, Sanatani S, etal . TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations . Human Genetics . 132 . 11 . 1245–52 . November 2013 . 23812740 . 10.1007/s00439-013-1323-2. 16184868 .
8. Web site: OMIM Entry #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7 . omim.org . 29 August 2017.