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