Emerin (EMD)

EDMD; STA; LEMD5; Emery-Dreifuss Muscular Dystrophy; LEM Domain Containing 5

Emerin (EMD)
Emerin, together with MAN1, is a LEM domain-containing integral membrane protein of the nuclear membrane in vertebrates. The function of MAN1 is not extensively known, but emerin is known to interact with nuclear lamins, barrier-to-autointegration factor (BAF), nesprin-1alpha , and a transcription repressor.
Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy.

Organism species: Homo sapiens (Human)

Organism species: Mus musculus (Mouse)

Organism species: Rattus norvegicus (Rat)