EMD Antibody – Rabbit Polyclonal

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]

emerin: a single pass membrane protein that spans the inner nuclear membrane. A serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It interacts with lamins A and C, and mediates membrane anchorage to the cytoskeleton. 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 an exportin 1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. Colocalized with BAF at the central region of the assembling nuclear rim, near spindle-attachment sites. Hyper-phosphorylated on tyrosine in cells overexpressing HER2. Directly phosphorylated by Src and Abl. Phosphorylated by Src at Y59, Y74 and Y95. May function as a downstream effector and signal integrator for tyrosine kinase signaling pathways at the nuclear envelope. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene.

Protein type: Cytoskeletal; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: nuclear outer membrane; microtubule; nuclear membrane; membrane; endoplasmic reticulum; integral to membrane; nuclear inner membrane; nuclear envelope

Molecular Function: protein binding; beta-tubulin binding; actin binding

Biological Process: positive regulation of protein export from nucleus; muscle development; mitotic nuclear envelope reassembly; muscle contraction; negative regulation of fibroblast proliferation; mitotic nuclear envelope disassembly; mitotic cell cycle

Disease: Emery-dreifuss Muscular Dystrophy 1, X-linked