TMEM43

TMEM43 (also known as LUMA) encodes a highly conserved integral inner nuclear membrane protein with four transmembrane domains. The protein functions primarily as a structural/adapter component at the inner nuclear membrane (INM), where it interacts with emerin, lamins A/C, and SUN2 to maintain nuclear envelope integrity and contribute to mechanotransduction through LINC complex associations. TMEM43 is required for retaining emerin at the INM. Beyond the nuclear envelope, TMEM43 also localizes to the ER membrane and, in cardiomyocytes, to intercalated discs. In cochlear glia-like supporting cells, it contributes to passive conductance current through gap junction interactions with connexins (Cx26/Cx30). Pathogenic variants cause arrhythmogenic right ventricular cardiomyopathy type 5 (ARVD5, notably p.S358L), Emery-Dreifuss muscular dystrophy type 7 (EDMD7), and autosomal dominant auditory neuropathy (AUNA3). The protein also plays roles in NF-kappa-B signaling downstream of EGFR and modulates innate immune signaling through the cGAS-STING pathway via interaction with RNF26.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

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