TMEM43

TMEM43
Identifiers
AliasesTMEM43, ARVC5, ARVD5, EDMD7, LUMA, transmembrane protein 43, AUNA3, EDMD7; AUNA2
External IDsOMIM: 612048; MGI: 1921372; GeneCards: TMEM43
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

79188

74122

Ensembl

ENSG00000170876

ENSMUSG00000030095

UniProt

Q9BTV4

Q9DBS1

RefSeq (mRNA)

NM_024334

NM_028766

RefSeq (protein)

NP_077310

NP_083042

Location (UCSC)Chr 3: 14.13 – 14.14 MbChr 6: 91.45 – 91.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane protein 43 (also called luma) is a protein that in humans is encoded by the TMEM43 gene.[5][6] 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.[7] In contrast Christensen et al. have shown that TMEM43 is mainly localized at the sarcolemma.[8] Mutations in TMEM43 are associated with ARVD[9][10][11][12] and EDMD7.[13]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170876 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030095 – 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.
  5. ^ Wiemann S, Weil B, Wellenreuther R, et al. (March 2001). "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. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  6. ^ EntrezGene 79188
  7. ^ Franke WW, Dörflinger Y, Kuhn C, et al. (July 2014). "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. doi:10.1007/s00441-014-1865-1. PMID 24770932. S2CID 18099395.
  8. ^ Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy". Clinical Genetics. 80 (3): 256–64. doi:10.1111/j.1399-0004.2011.01623.x. PMID 21214875. S2CID 5617616.
  9. ^ Merner ND, Hodgkinson KA, Haywood AF, et al. (April 2008). "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. doi:10.1016/j.ajhg.2008.01.010. PMC 2427209. PMID 18313022.
  10. ^ Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy". Clinical Genetics. 80 (3): 256–64. doi:10.1111/j.1399-0004.2011.01623.x. PMID 21214875. S2CID 5617616.
  11. ^ Haywood AF, Merner ND, Hodgkinson KA, et al. (April 2013). "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. doi:10.1093/eurheartj/ehs383. PMID 23161701.
  12. ^ Baskin B, Skinner JR, Sanatani S, et al. (November 2013). "TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations". Human Genetics. 132 (11): 1245–52. doi:10.1007/s00439-013-1323-2. PMID 23812740. S2CID 16184868.
  13. ^ "OMIM Entry #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7". omim.org. Retrieved 29 August 2017.

Further reading


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