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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.
Read more about gene names and symbols on the About page.
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?
Where is the EMD gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 154,379,236 to 154,381,522
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 154,379,236 to base pair 154,381,522 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EMD?
You and your healthcare professional may find the following resources about EMD helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the EMD gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding EMD?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
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? in the Handbook.