Gene Symbol | EMD |
Entrez Gene ID | 2010 |
Full Name | emerin |
Synonyms | EDMD,LEMD5,STA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) |