Antibody to Emerin - FocusOn 034
Introduction: The STA gene, at Xq28 locus, encodes a serine-rich 34 kD protein, Emerin, which is ubiquitous in tissues and is found in highest concentration in skeletal and cardiac muscle. Emerin is localised in the nuclear membrane of normal muscle cells and its deficiency plays a crucial part in the pathology of Emery-Dreifuss muscular dystrophy (EDMD).
Human Emerin is a serine-rich protein of 254 amino acids. The sequence of Emerin is composed of an N-terminal globular domain of about 50 residues, followed by a poly-Ser segment, then a region of 100 residues rich in hydrophobic amino acids comprising the nuclear localization signal, again a poly-Ser segment, and finally a C-terminal transmembrane region. To date, more than 50 different pathogenic mutations have been described in Emerin, most resulting in truncated proteins which are not expressed and others causing amino acid substitutions. Interestingly, despite the different mutations in EDMD, producing varying effects on Emerin expression, the clinical phenotype of all the patients is similar.
EDMD is a late onset X-linked recessive disorder characterised by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy usually presented as heart block. Contractures are seen in the elbows, Achilles tendons and postcervical muscles with humeroperoneal distribution early in the course of the disease.
Available Antibody to Emerin
Acris Antibodies offers a rabbit polyclonal antibody which was raised against human recombinant 70 N-term amino acids of Emerin. The antibody is reactive also on rodent samples using immunofluorescence and western blotting, but shows poor staining on rodent tissues slides.
Fig.1: Immunoblots of human tissue samples using affinity-purified Emerin antibody BP4518
Fig.2: Immunohistochemistry on human skeletal muscle using BP4518. A frozen section of biopsied skeletal muscle is stained at 1:500 dilution (brown). Approx X160 magnification. All nuclei are stained for Emerin.
- Wolf A. et al. Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy FEBS Lett Volume 501, Issue 2-3, pp. 171-176 (2001)