P50402

Emerin (also designated EMD, EDMD) is believed to be a member of the nuclear lamina associated protein family. It is ubiquitously expressed and localized to the nuclear membrane in normal cells. Mutations of the gene that encodes emerin result in the X-linked recessive disease Emery-Dreyfuss muscular dystrophy (EDMD), which is characterized by slowly progressing contractures, skeletal muscle wasting and cardiomyopathy. Research has demonstrated that the lack of emerin expression is one cause of EDMD. Emerin is involved in the association of the nuclear membrane with the lamina, and is localized specifically to desmosomes and fasciae adherentes in the heart. This may account for conduction defects in patients with EDMD.