SGCE wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SGCE wild-type allele is located in the vicinity of 7q21.3 and is approximately 132 kb in length. This allele, which encodes epsilon-sarcoglycan protein, plays a role in linking the actin cytoskeleton and the extracellular matrix. Mutations in the gene are associated with myoclonic dystonia 11.

**Synonyms:** - DYT11 - Dystonia 11, Myoclonic Gene - ESG - Epsilon-SG Gene - Sarcoglycan Epsilon wt Allele - Sarcoglycan, Epsilon Gene - UNQ433/PRO840