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emerin
Emerin is a protein that in humans is encoded by the ''EMD'' gene, also known as the ''STA'' gene. Emerin, together with MAN1, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates. Emerin is highly expressed 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.
== Structure ==
Emerin is a 29.0 kDa (34 kDa observed MW) protein composed of 254 amino acids.〔(【引用サイトリンク】url=http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=P50402 )〕 Emerin is a serine-rich protein with an N-terminal 20-amino acid hydrophobic region that is flanked by charged residues; the hydrophobic region may be important for anchoring the protein to the membrane, with the charged terminal tails being cytosolic. In cardiac, skeletal, and smooth muscle, emerin localizes to the inner nuclear membrane; expression of emerin is highest in skeletal and cardiac muscle. In cardiac muscle specifically, emerin also resides at adherens junctions within intercalated discs.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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