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Li, V. EMD Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5340 (accessed on 23 July 2024).
Li V. EMD Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5340. Accessed July 23, 2024.
Li, Vivi. "EMD Gene" Encyclopedia, https://encyclopedia.pub/entry/5340 (accessed July 23, 2024).
Li, V. (2020, December 24). EMD Gene. In Encyclopedia. https://encyclopedia.pub/entry/5340
Li, Vivi. "EMD Gene." Encyclopedia. Web. 24 December, 2020.
EMD Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/emd

Emerin: The EMD gene provides instructions for making a protein called emerin. 

genes

1. Normal Function

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 the 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 are involved in regulating the activity of certain genes, controlling cell division and chemical signaling, 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.

2. Health Conditions Related to Genetic Changes

2.1 Emery-Dreifuss Muscular Dystrophy

More than 100 mutations in the EMD gene have been reported in people with Emery-Dreifuss muscular dystrophy. This condition affects skeletal and cardiac muscle, causing joint deformities called contractures, which restrict the movement of certain joints; muscle weakness and wasting that worsen over time; and heart problems, including an increased risk of sudden death.

Almost all of the EMD gene 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.

3. Other Names for This Gene

  • EMD_HUMAN

  • emerin (Emery-Dreifuss muscular dystrophy)

  • STA

References

  1. Bengtsson L, Wilson KL. Multiple and surprising new functions for emerin, anuclear membrane protein. Curr Opin Cell Biol. 2004 Feb;16(1):73-9. Review.
  2. Berk JM, Tifft KE, Wilson KL. The nuclear envelope LEM-domain protein emerin. Nucleus. 2013 Jul-Aug;4(4):298-314. doi: 10.4161/nucl.25751.Review.
  3. Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss Muscular Dystrophy. 2004 Sep 29[updated 2019 Aug 15]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1436/
  4. Fairley EA, Kendrick-Jones J, Ellis JA. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the innernuclear membrane. J Cell Sci. 1999 Aug;112 ( Pt 15):2571-82. Erratum in: J CellSci 1999 Dec;112(Pt 24):following 4800.
  5. Koch AJ, Holaska JM. Emerin in health and disease. Semin Cell Dev Biol. 2014May;29:95-106. doi: 10.1016/j.semcdb.2013.12.008.
  6. 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 generegulation, actin dynamics and human disease. Novartis Found Symp.2005;264:51-58; discussion 58-62, 227-30. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Vivi Li
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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