Emerin
Sign in to saveAlso known as LEM domain containing 5, uniprot:P50402, EMD
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.
Clinical Trials
5 registered- RECRUITINGObservatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)Pitié-Salpêtrière Hospital · NCT03058185
- RECRUITINGCongenital Muscle Disease Study of Patient and Family Reported Medical InformationCure CMD · NCT01403402
- NARECRUITINGModifying Factors in Striated Muscle LaminopathiesInstitut National de la Santé Et de la Recherche Médicale, France · NCT05394506
- COMPLETEDA Model for Healthy Aging: Moscow Centenarians (AGE-100)Pirogov Russian National Research Medical University · NCT02876809
- COMPLETEDClinical Studies of ProgeriaNational Human Genome Research Institute (NHGRI) · NCT00094393
Wikidata facts
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- Protein EMD PDB 1jei.png
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~3 min read
Article
7 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
- External links
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.
It is named after Alan Emery.