Emerin

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.

EMD
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEMD, EDMD, LEMD5, STA, emerin
External IDsOMIM: 300384 MGI: 108117 HomoloGene: 91 GeneCards: EMD
Orthologs
SpeciesHumanMouse
Entrez

2010

13726

Ensembl

ENSG00000102119

ENSMUSG00000001964

UniProt

P50402

O08579

RefSeq (mRNA)

NM_000117

NM_007927

RefSeq (protein)

NP_000108

NP_031953

Location (UCSC)Chr X: 154.38 – 154.38 MbChr X: 73.3 – 73.31 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

It is named after Alan Emery.

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