Gene/Protein Disease Symptom Drug Enzyme Compound
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X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in both tissue-specific gene regulation and the mechanical integrity of the nucleus and discusses how these roles might impact EDMD.
Anat Rec A Discov Mol Cell Evol Biol 2006 Jul
PMID:Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. 1676 Dec 79