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TMEM43

TMEM43

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

Arrhythmogenic cardiomyopathy

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

Arrhythmogenic_cardiomyopathy

List of genetic disorders

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

List_of_genetic_disorders

Emery–Dreifuss muscular dystrophy

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

Emerin

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

List of human protein-coding genes 8

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

List of OMIM disorder codes

611528; JUP Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2 Arterial

List of OMIM disorder codes

List_of_OMIM_disorder_codes