Emerin [EMD/2168]

Emerin is 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-Dreifuss muscular dystrophy (EDMD), which is characterized by slowly progressing contractures, skeletal muscle wasting and cardiomyopathy. Reportedly, 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 adherents in the heart. Identification of nuclear membrane irregularities with anti-emerin antibody has been reported useful in diagnosing papillary thyroid carcinoma.