(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...
7 KB (914 words) - 22:24, 3 March 2023
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...
50 KB (5,441 words) - 04:00, 19 August 2024
partial trisomy Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43 Epidermolysis bullosa KRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5...
42 KB (983 words) - 10:34, 21 August 2024
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...
21 KB (1,627 words) - 14:48, 21 August 2024
ACTA1, ACTG2, BANF1, BCLAF1, CTNNB1, GMCL1, LMNA, PSME1, SYNE1, SYNE2, TMEM43, and YTHDC1. GRCh38: Ensembl release 89: ENSG00000102119 – Ensembl, May...
20 KB (2,335 words) - 05:18, 27 May 2024
Q96HV5 16842 TMEM41B HGNC:28948 Q5BJD5 16843 TMEM42 HGNC:28444 Q69YG0 16844 TMEM43 HGNC:28472 Q9BTV4 16845 TMEM44 HGNC:25120 Q2T9K0 16846 TMEM45A HGNC:25480...
242 KB (17 words) - 23:17, 27 April 2024
611528; JUP Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2 Arterial...
234 KB (18,877 words) - 15:43, 9 May 2024