背景
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. [provided by RefSeq, Jul 2008],
功能
disease:Defects in EMD are a cause of X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) [MIM:310300]. X-EDMD is an X-linked disorder characterized by early contractures, muscle wasting and weakness and cardiomyopathy.,miscellaneous:Binding to BCLAF1 is specifically and selectively disrupted by the disease-associated Phe-54 missense mutation.,online information:"EMD mutation database",PTM:Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle.,similarity:Contains 1 LEM domain.,subcellular location:Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites.,subunit:Interacts with lamins A and C, BANF1, GMCL, BCLAF1 and YTHDC1/YT521. Interacts with TMEM43; the interaction retains emerin in the nuclear inner membrane.,tissue specificity:Skeletal muscle, heart, colon, testis, ovary and pancreas.
