Emerin est un gène codé par le symbole EMD. D'autres noms incluent: EMD; EDMD; STA. Emerin a une masse de 28.99kDa, une longueur d'acide aminé de 254, et est impliqué dans Emery-Dreifuss muscular dystrophy 1, X-linked.
Nous proposons 12 des anticorps contre Emerin, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C.
Résumé Entrez
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.
Spécificité tissulaire
Skeletal muscle, heart, colon, testis, ovary and pancreas.
Implication dans la maladie
Emery-Dreifuss muscular dystrophy 1, X-linked: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Modification post-traductionnelle
Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle.
Localisation cellulaire
Nucleus inner membrane. Nucleus outer membrane.
Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites. The accumulation of different intermediates of prelamin-A/C (non-farnesylated or carboxymethylated farnesylated prelamin-A/C) in fibroblasts modify its localization in the nucleus.
