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Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene. Emerin, together with LEMD3, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates. Emerin is highly expressed in cardiac and skeletal muscle. In cardiac muscle, emerin localizes to adherens junctions within intercalated discs where it appears to function in mechanotransduction of cellular strain and in beta-catenin signaling. Mutations in emerin cause X-linked recessive Emery–Dreifuss muscular dystrophy, cardiac conduction abnormalities and dilated cardiomyopathy.
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References
- 1 2 3 4 5 6 7 8 9 10 Peter Harper; Lois Reynolds; Tilli Tansey, eds. (2010). Clinical Genetics in Britain: Origins and development. Wellcome Witnesses to Contemporary Medicine. History of Modern Biomedicine Research Group. ISBN 978-0-85484-127-1. Wikidata Q29581774.
- 1 2 "Alan Emery". University of Oxford . Retrieved 5 July 2017.
