# DES wt Allele

National Cancer Institute

## Source

National Cancer Institute. DES wt Allele. NCI Thesaurus. Code C96449.

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 11 and neurogenic scapuloperoneal syndrome Kaeser type.