Emerin è un gene codificato dal simbolo EMD. Altri nomi includono: EMD; EDMD; STA. Emerin ha una massa di 28.99kDa, una lunghezza di amminoacidi di 254, ed è implicato in Emery-Dreifuss muscular dystrophy 1, X-linked.
Offriamo 12 anticorpi contro Emerin, allevati nel Coniglio e Topo, che sono adatti per WB, IHC e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Skeletal muscle, heart, colon, testis, ovary and pancreas.
Coinvolgimento nella malattia
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.
Modifica post-translazionale
Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle.
Posizione cellulare
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.