EMD
GeneName
EMD
Summary
EMD, also known as emerin or STA, is a 29 kDa integral membrane protein predominantly localised to the nuclear envelope, particularly the inner nuclear membrane. It is involved in various cellular functions including actin and beta-tubulin binding, which suggests a role in cytoskeletal organisation. EMD is implicated in muscle contraction and muscle organ development, and it plays a part in the regulation of Wnt signalling pathways. Additionally, it is associated with the organisation of the nuclear membrane and is involved in the cellular response to growth factor stimuli. EMD is expressed in tissues such as skeletal muscle and is important for maintaining nuclear structure and function.
Importance
EMD is relevant to: - Muscular dystrophies, particularly Emery-Dreifuss muscular dystrophy, due to its role in maintaining nuclear integrity in muscle cells. - Research on nuclear envelope dynamics and organisation, which is crucial for understanding various cellular processes. - Studies on Wnt signalling pathways, as it influences cellular responses that are significant in development and disease. - Investigations into the mechanisms of amyloid fibril formation, which are important in the context of neurodegenerative diseases.
Top Products
For researchers investigating EMD, we recommend two excellent primary antibodies. The first is the well-cited polyclonal antibody, Anti-Emerin antibody (ab40688), which has garnered 16 citations and is highly regarded for its performance in Western blotting (WB), immunocytochemistry (ICC), and immunoprecipitation (IP). Notably, this antibody has been validated in knockout models, ensuring reliable results in your experiments. Additionally, we offer the recombinant antibody, Anti-Emerin antibody [EPR11071] (ab156871). This product is also validated in knockout models and is suitable for a broader range of applications, including WB, ICC, immunohistochemistry (IHC), and flow cytometry (FC). With 7 citations, it demonstrates its growing acceptance in the research community. The recombinant nature of this antibody ensures batch-to-batch consistency, making it an excellent choice for researchers seeking dependable EMD detection.
Abcam Product Citation Summary
The use of Abcam antibody ab156871 for EMD detection in mouse cardiac and skeletal muscle highlights its relevance in studying muscle-related conditions and diseases. The application in western blotting suggests a focus on protein expression levels in these tissues.
Abcam Product Citation Table
Function
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. Required for proper localization of non-farnesylated prelamin-A/C. Together with NEMP1, contributes to nuclear envelope stiffness in germ cells (PubMed:32923640). 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.
Involvement in disease
Emery-Dreifuss muscular dystrophy 1, X-linked
EDMD1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle.
Tissue Specificity
Skeletal muscle, heart, colon, testis, ovary and pancreas.
Cellular localization
- Nucleus inner membrane
- Single-pass membrane protein
- Nucleoplasmic side
- 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.
Alternative names
EDMD, STA, EMD, Emerin