Gene_In_Chromosomal_Location CTRP Terminology CSTB Gene CSTB wt Allele CSTB wt Allele PME 601145 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). Cystatin B (Stefin B) Gene CPI-B Cystatin B wt Allele EPM1 ULD CSTB wt Allele CL512128 CTRP EPM1A C128871 L03558 CST6 CSTB wt Allele STFB 1476 Gene or Genome 21q22.3 CTRP Biomarker Terminology CTRP Molecular Genetic Biomarker Terminology