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Protein-coding gene in the species Homo sapiens
(also called luma) is a protein that in humans is encoded by the TMEM43 gene. TMEM43 may have an important role in maintaining nuclear envelope structure
TMEM43
Medical condition
penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene". American Journal of Human Genetics. 82 (4): 809–821. doi:10.1016/j
Arrhythmogenic_cardiomyopathy
partial trisomy Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43 Epidermolysis bullosa KRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5
List_of_genetic_disorders
Medical condition
implicated in EDMD. It is involved in sarcomere assembly. EDMD7 614302 TMEM43 transmembrane protein 43 (LUMA) AD LUMA binds to emerin and LMNA, and interacts
Emery–Dreifuss muscular dystrophy
Emery–Dreifuss_muscular_dystrophy
Protein-coding gene in humans
ACTA1, ACTG2, BANF1, BCLAF1, CTNNB1, GMCL1, LMNA, PSME1, SYNE1, SYNE2, TMEM43, and YTHDC1. GRCh38: Ensembl release 89: ENSG00000102119 – Ensembl, May
Emerin
Mass spectrometry proteomic analysis software suite
Hendrik; Paululat, Achim (22 July 2022). "A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5". Cellular
PEAKS
16858 TMEM41B HGNC:28948; Q5BJD5 16859 TMEM42 HGNC:28444; Q69YG0 16860 TMEM43 HGNC:28472; Q9BTV4 16861 TMEM44 HGNC:25120; Q2T9K0 16862 TMEM45A HGNC:25480;
List of human protein-coding genes 8
List_of_human_protein-coding_genes_8
611528; JUP Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2 Arterial
List_of_OMIM_disorder_codes
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