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TMEM43 - transmembrane protein 43
- Synonym(s) : DKFZp586G1919, LUMA, MGC3222
- Previous symbols and names : ARVD5, arrhythmogenic right ventricular dysplasia 5
- Type : gene with protein product
- Chromosomal location : 3p25.1
- OMIM: 612048
- HGNC: 28472
- UniProtKB: Q9BTV4
- Genatlas: TMEM43
- GenCC: TMEM43
- Ensembl: ENSG00000170876
- IUPHAR-DB: -
- Reactome: Q9BTV4
- LOVD: TMEM43
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant Emery-Dreifuss muscular dystrophy
ORPHA:98853 
- Disease-causing germline mutation(s) (loss of function) in Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
ORPHA:293888 - Disease-causing germline mutation(s) (loss of function) in Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ORPHA:293910 - Disease-causing germline mutation(s) (loss of function) in Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ORPHA:293899
: AssessedAdditional information
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