EMD wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - EDMD - Emerin wt Allele - Emery-Dreifuss Muscular Dystrophy Gene - LEM Domain Containing 5 Gene - LEMD5 - STA