emerin
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A 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 the heart (cardiac muscle).
Normal function
A 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 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.
Conditions referring to this gene or chromosome
Other names
EMD_HUMAN
emerin (Emery-Dreifuss muscular dystrophy)
STA
Leitura adicional e referências
- emerin; MedlinePlus, National Library of Medicine.
- Ben Yaou R, Leturcq F, Bonne G. Emery-Dreifuss Muscular Dystrophy. 2004 Sep 29 [updated 2025 Sep 18]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1436/
- 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. doi: 10.1016/j.ceb.2003.11.012.
- 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. Epub 2013 Jul 17.
- 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. doi: 10.1242/jcs.112.15.2571.
- Koch AJ, Holaska JM. Emerin in health and disease. Semin Cell Dev Biol. 2014 May;29:95-106. doi: 10.1016/j.semcdb.2013.12.008. Epub 2013 Dec 21.
- 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.
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