CSTB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CSTB wild-type allele is located in the vicinity of 21q22.3 and is approximately 4 kb in length. This allele, which encodes cystatin-B protein, plays a role in thiol protease inhibition. Mutation of the gene is associated with progressive myoclonic epilepsy 1A (myoclonic epilepsy of Unverricht and Lundborg).

**Synonyms:** - CPI-B - CST6 - Cystatin B (Stefin B) Gene - Cystatin B wt Allele - EPM1 - EPM1A - PME - STFB - ULD