| EMD — Emerin | |
|---|---|
| Symbol | EMD |
| Full Name | Emerin |
| Chromosome | Xq28 |
| NCBI Gene | 2010 |
| Ensembl | ENSG00000102119 |
| OMIM | 300384 |
| UniProt | P50402 |
| Diseases | Emery-Dreifuss Muscular Dystrophy, X-linked Dilated Cardiomyopathy |
| Expression | Skeletal Muscle, Cardiac Muscle, Nuclear Envelope |
| Key Mutations | |
| c.271C>T (p.Arg91*) deletion exons 1-6 |
|
EMD (Emerin) is a gene located on chromosome Xq28 that plays a critical role in neurodegenerative disease. Mutations in EMD are associated with Emery-Dreifuss Muscular Dystrophy, X-linked Dilated Cardiomyopathy. The gene is catalogued as NCBI Gene ID 2010 and OMIM 300384.
The EMD gene encodes a protein that is expressed in multiple brain regions including Skeletal Muscle, Cardiac Muscle, Nuclear Envelope. The normal function of this gene product is essential for neuronal health and survival.
Expression data is available from the Allen Human Brain Atlas.
EMD mutations are linked to the following neurodegenerative conditions:
Page auto-generated from NeuroWiki gene database. Last updated: 2026-02-26.