Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

EMD

Reviewed June 2006

What is the official name of the EMD gene?

The official name of this gene is “emerin.”

EMD is the gene's official symbol. The EMD gene is also known by other names, listed below.

What is the normal function of the EMD gene?

The EMD gene provides instructions for making a protein called emerin. Although this protein is produced in many tissues, it appears to be particularly important for the normal function of muscles used for movement (skeletal muscles) and heart (cardiac) muscle.

Within cells, emerin is a component of the nuclear envelope. The nuclear envelope is a structure that surrounds the nucleus, acting as a barrier between the nucleus and the surrounding fluid (cytoplasm) inside the cell. The nuclear envelope has several functions, including regulating the movement of molecules into and out of the nucleus.

Emerin interacts with several other proteins on the inner surface of the nuclear envelope. Together, these proteins may be involved in regulating the activity of certain genes, controlling the cell division cycle, and maintaining the structure and stability of the nucleus. Emerin and related proteins also play a role in assembling the nucleus during the process of cell division.

How are changes in the EMD gene related to health conditions?

Emery-Dreifuss muscular dystrophy - caused by mutations in the EMD gene

About 100 mutations in the EMD gene have been reported in people with Emery-Dreifuss muscular dystrophy. Almost all of these mutations prevent cells from producing any emerin protein. Researchers have not determined how a lack of this protein leads to the skeletal and cardiac muscle abnormalities characteristic of Emery-Dreifuss muscular dystrophy. Studies suggest, however, that an absence of emerin could disrupt the functions of other proteins in the nuclear envelope. These changes may alter the activity of certain genes or weaken the structure of the nucleus, making cells more fragile.

In rare cases, Emery-Dreifuss muscular dystrophy results from EMD mutations that change a single building block (amino acid) in the emerin protein. These mutations lead to the production of an abnormal version of emerin that is unable to interact with other proteins or cannot be correctly inserted into the nuclear envelope. This type of mutation may be responsible for some cases of Emery-Dreifuss muscular dystrophy with unusually mild signs and symptoms.

Where is the EMD gene located?

Cytogenetic Location: Xq28

Molecular Location on the X chromosome: base pairs 153,607,596 to 153,609,882

The EMD gene is located on the long (q) arm of the X chromosome at position 28.

The EMD gene is located on the long (q) arm of the X chromosome at position 28.

More precisely, the EMD gene is located from base pair 153,607,596 to base pair 153,609,882 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about EMD?

You and your healthcare professional may find the following resources about EMD helpful.

  • Educational resources - Information pages
    The Transport of Molecules between the Nucleus and the Cytosol (Molecular Biology of the Cell, Fourth Edition, 2002) (http://www.ncbi.nlm.nih.gov/books/NBK26932/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1436/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for EMD (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2010%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((EMD%5BTIAB%5D)%20OR%20(emerin%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201440%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/300384)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_EMD.html)
    • EMD mutation database (Leiden University Medical Center) (http://www.dmd.nl/nmdb/home.php?select_db=EMD)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2010)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2010)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3331)

What other names do people use for the EMD gene or gene products?

  • EMD_HUMAN
  • emerin (Emery-Dreifuss muscular dystrophy)
  • STA

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding EMD?

amino acid ; cardiac ; cell ; cell division ; cell division cycle ; cytoplasm ; gene ; muscular dystrophy ; mutation ; nuclear envelope ; nuclear membrane ; nucleus ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bengtsson L, Wilson KL. Multiple and surprising new functions for emerin, a nuclear membrane protein. Curr Opin Cell Biol. 2004 Feb;16(1):73-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15037308?dopt=Abstract)
  • Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord. 2000 Jun;10(4-5):228-32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10838246?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2010)
  • 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. J Cell Sci. 1999 Aug;112 ( Pt 15):2571-82. Erratum in: J Cell Sci 1999 Dec;112(Pt 24):following 4800. (http://www.ncbi.nlm.nih.gov/pubmed/10393813?dopt=Abstract)
  • Gene Review: Emery-Dreifuss Muscular Dystrophy (http://www.ncbi.nlm.nih.gov/books/NBK1436/)
  • Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy. Eur J Hum Genet. 2002 Mar;10(3):157-61. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11973618?dopt=Abstract)
  • Maraldi NM, Lattanzi G, Sabatelli P, Ognibene A, Squarzoni S. Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2002 Nov;12(9):815-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12398831?dopt=Abstract)
  • Wilson KL, Holaska JM, Montes de Oca R, Tifft K, Zastrow M, Segura-Totten M, Mansharamani M, Bengtsson L. Nuclear membrane protein emerin: roles in gene regulation, actin dynamics and human disease. Novartis Found Symp. 2005;264:51-58; discussion 58-62, 227-30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15773747?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2006
Published: May 20, 2013