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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. Defects in TMEM43 are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5); also known as arrhythmogenic right ventricular cardiomyopathy (ARVC5). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the TMEM43 family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 3p25.1
Cellular Component: Golgi apparatus
Molecular Function: protein binding
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 5; Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant
Reference #:  Q9BTV4 (UniProtKB)
Alt. Names/Synonyms: ARVC5; ARVD5; DKFZp586G1919; LUMA; MGC3222; Protein LUMA; TMEM43; TMM43; Transmembrane protein 43
Gene Symbols: TMEM43
Molecular weight: 44,876 Da
Basal Isoelectric point: 7.86  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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