Emerin (EMD)

Emerin is a serine-rich nuclear membrane protein consisting of 254 amino acids (∼29 kDa). It contains an N-terminal LEM domain allowing interaction with nuclear lamins and DNA-binding proteins (such as BAF), which is essential for maintaining nuclear architecture and organizing chromatin. Highly expressed in cardiac and skeletal muscle, emerin is crucial for nuclear envelope integrity, regulation of gene expression, and myogenic differentiation. Mutations in the *EMD* gene cause Emery–Dreifuss muscular dystrophy, a rare X-linked disorder characterized by skeletal muscle wasting, joint contractures, and life-threatening cardiac arrhythmias. Emerin interacts with various nuclear proteins (lamins, HDAC3, chromatin modifiers) to coordinate chromatin tethering, gene silencing, and nuclear lamina reformation, especially during cell division and differentiation. Loss of emerin disrupts nuclear mechanics and gene regulation, leading to the pathology noted in EDMD and related conditions.

Other names

EmerinEMDEDMDSTALEM domain-containing 5LEMD5

Not applicable, as no drugs directly target emerin