DES wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human DES wild-type allele is located in the vicinity of 2q35 and is approximately 8 kb in length. This allele, which encodes desmin protein, plays a role in muscle cell contraction. Mutation of the gene is associated with myopathy myofibrillar desmin-related, cardiomyopathy dilated type 1I and neurogenic scapuloperoneal syndrome Kaeser type.

**Synonyms:** - CMD1I - CSM1 - CSM2 - Desmin wt Allele - FLJ12025 - FLJ39719 - FLJ41013 - FLJ41793