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Emerin

EMD
Protein EMD PDB 1jei.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases EMD, EDMD, LEMD5, STA, emerin
External IDs OMIM: 300384 MGI: 108117 HomoloGene: 91 GeneCards: EMD
RNA expression pattern
PBB GE EMD 209477 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000117

NM_007927

RefSeq (protein)

NP_000108

NP_031953.1
NP_031953

Location (UCSC) Chr X: 154.38 – 154.38 Mb Chr X: 74.25 – 74.26 Mb
PubMed search

1JEI, 2ODC, 2ODG

NM_000117

NM_007927

NP_000108

NP_031953.1
NP_031953

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 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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Wikipedia

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