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EMD (emerin) is a nuclear membrane protein and member of the nuclear lamina-associated protein family, which includes LMNA (lamin A). Together these proteins serve as the main structural framework of… Click to show full abstract
EMD (emerin) is a nuclear membrane protein and member of the nuclear lamina-associated protein family, which includes LMNA (lamin A). Together these proteins serve as the main structural framework of nuclei in mammalian cells. Among their many roles, they contribute to maintaining the structural integrity of myocytes, linking the nuclear lamina to the cellular cytoskeleton.1 Both EMD and LMNA are highly expressed in skeletal and cardiac muscle, and genetic defects in these genes are well-recognized causes of Emery-Dreifuss syndrome. This condition may be autosomal dominant in nature when caused by LMNA, or X-linked recessive in inheritance due to EMD mutations.
Journal Title: Circulation: Arrhythmia and Electrophysiology
Year Published: 2020
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