Anti-TMEM43 antibody (ab230213)

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.

Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.

Defects in TMEM43 are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5) [MIM:604400]; 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.

Endoplasmic reticulum. Nucleus inner membrane. Retained in the inner nuclear membrane through interaction with EMD and A-and B-lamins. The N- and C-termini are orientated towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen.