CSTB

Cystatin-B ;
CPI-B ;
Liver thiol proteinase inhibitor ;
Stefin-B ;

disease:Defects in CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]. EPM1 is an autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.,function:This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.,similarity:Belongs to the cystatin family.,subunit:Able to form dimers stabilized by noncovalent forces.,

behavior, locomotory behavior, adult locomotory behavior, negative regulation of peptidase activity, regulation of cell death, adult behavior, regulation of apoptosis, regulation of programmed cell death, negative regulation of catalytic activity, negative regulation of molecular function, regulation of hydrolase activity, negative regulation of hydrolase activity, regulation of peptidase activity,

Cytoplasm . Nucleus .