EMD wt Allele - CISMeF

Preferred Label : EMD wt Allele;

NCIt synonyms : Emery-Dreifuss Muscular Dystrophy Gene; EDMD; Emerin wt Allele; STA; LEM Domain Containing 5 Gene; LEMD5;

NCIt definition : Human EMD wild-type allele is located in the vicinity of Xq28 and is approximately 2 kb in length. This allele, which encodes emerin protein, is involved in the association of actin filaments with the nuclear lamina and linking centrosome microtubules to the nuclear envelope. Mutation of the gene is associated with X-linked Emery-Dreifuss muscular dystrophy 1.;

GenBank Accession Number : X82434;

Details

Origin ID

C201092;

OMIM relation
- Emerin [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_is_element_in_pathway
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Myogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Tubulin Binding [NCIt concept]

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