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EMD
emerin
The EMD gene provides instructions for emerin, a protein crucial for maintaining the structural integrity of the cell's nucleus and proper muscle function, particularly in skeletal and cardiac tissues. The EMD gene encodes the emerin protein, which is an integral component of the inner nuclear envelope.
EMD is located on the long (q) arm of chromosome X, at band Xq28. Arm ratio per GRCh38 - banding schematic.
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Overview
The EMD gene is responsible for creating a protein known as emerin. Although emerin is present in various tissues throughout the body, it plays a particularly significant role in the healthy functioning of muscles involved in movement (skeletal muscles) and the heart (cardiac muscle).
Emerin is located within the nuclear envelope, which serves as a protective barrier around the cell's nucleus, regulating what enters and exits this crucial cellular compartment.
What the gene does
Emerin, the protein encoded by the EMD gene, is a key component of the nuclear envelope, specifically positioned on its inner surface. This structure acts as a boundary between the cell's nucleus and the surrounding cytoplasm, controlling molecular transport.
Within this nuclear context, emerin interacts with various other proteins. These interactions contribute to several cellular processes, including the regulation of gene activity, control over cell division, chemical signalling, and maintaining the overall structural stability of the nucleus. Emerin also plays a part in the assembly of the nucleus during cell division.
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Chromosome location
The EMD gene is located on the long arm of the X chromosome at position Xq28. This chromosomal region is rich in genes and plays a role in various cellular processes.
Protein structure
The emerin protein, encoded by the EMD gene, is composed of 254 amino acids. It features a notable LEM (Domain) located at amino acids 1-45. Additionally, distinct regions have been identified for protein interactions: an Interaction with F-actin (Region) spans amino acids 46-222, and an Interaction with CTNNB1 (Region) is found between amino acids 168-186.
Key variants
Genetic variations, or variants, in the EMD gene can affect the production or function of the emerin protein. These changes can range from small alterations in the DNA sequence to larger structural rearrangements. Identifying specific EMD variants can provide insights into their potential impact on protein function and associated health conditions.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.116_143del | p.Phe39fs | Pathogenic | ★★☆☆ | Emery-Dreifuss muscular dystrophy 1, X-linked |
c.135dup | p.Arg46fs | Pathogenic/Likely pathogenic | ★★☆☆ | Emery-Dreifuss muscular dystrophy |
c.153del | p.Ser52fs | Pathogenic | ★★☆☆ | X-linked Emery-Dreifuss muscular dystrophy |
c.187+1G>A | - | Pathogenic | ★★☆☆ | X-linked Emery-Dreifuss muscular dystrophy |
c.266-3A>G | - | Pathogenic | ★★☆☆ | EMD-related disorders |
c.282C>G | p.Tyr94Ter | Pathogenic/Likely pathogenic | ★★☆☆ | X-linked Emery-Dreifuss muscular dystrophy |
c.359_362del | p.Gln119_Ser120insTer | Pathogenic/Likely pathogenic | ★★☆☆ | X-linked Emery-Dreifuss muscular dystrophy |
c.399+1G>T | - | Pathogenic | ★★☆☆ | Emery-Dreifuss muscular dystrophy |
c.399+2T>C | - | Pathogenic | ★★☆☆ | X-linked Emery-Dreifuss muscular dystrophy |
c.650_654del | p.Leu217fs | Pathogenic | ★★☆☆ | Cardiovascular phenotype |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variants in the EMD gene are primarily associated with Emery-Dreifuss muscular dystrophy (X-linked), an inherited condition affecting both skeletal and cardiac muscles. Individuals with this condition typically experience joint deformities that restrict movement, progressive muscle weakness, and significant heart-related issues, including an increased risk of sudden cardiac events.
Inheritance pattern
Conditions caused by pathogenic EMD variants typically follow X-linked inheritance.
Carrier frequency by population How common is heterozygous EMD carrier status across ancestry groups?UK clinical status
The EMD gene is recognised within the NHS Genomic Medicine Service due to its clinical significance. It is part of several 'green' gene panels, indicating strong evidence for its association with specific conditions. These panels include Congenital muscular dystrophy, Dilated and arrhythmogenic cardiomyopathy, Foetal anomalies, Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies, Paediatric or syndromic cardiomyopathy, and Progressive cardiac conduction disease.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the primary function of the EMD gene?
The EMD gene provides instructions for making emerin, a protein essential for the structural integrity of the nuclear envelope and the proper function of skeletal and cardiac muscles.
Which condition is most commonly associated with EMD gene variants?
Variants in the EMD gene are most commonly associated with Emery-Dreifuss muscular dystrophy, an inherited disorder characterised by muscle weakness, joint contractures, and heart problems.
Is the EMD gene on the NHS Genomic Medicine Service panels?
Yes, the EMD gene is included in several 'green' gene panels within the NHS Genomic Medicine Service, indicating its clinical relevance for conditions such as congenital muscular dystrophy and various cardiomyopathies.
References
- Koch AJ, Holaska JM. Emerin in health and disease. Seminars in cell & developmental biology. 2014. PMID: 24365856
- Berk JM, Tifft KE, Wilson KL. The nuclear envelope LEM-domain protein emerin. Nucleus (Austin, Tex.). 2013. PMID: 23873439
- Wilson KL, Holaska JM, Montes de Oca R. Nuclear membrane protein emerin: roles in gene regulation, actin dynamics and human disease. Novartis Foundation symposium. 2005. PMID: 15773747
- Bengtsson L, Wilson KL. Multiple and surprising new functions for emerin, a nuclear membrane protein. Current opinion in cell biology. 2004. PMID: 15037308
- Fairley EA, Kendrick-Jones J, Ellis JA. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. Journal of cell science. 1999. PMID: 10393813
- Adam MP, Bick S, Mirzaa GM. Emery-Dreifuss Muscular Dystrophy. 1993. PMID: 20301609