Cystatin B (CSTB) Antibody – Mouse Monoclonal

CSTB: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. Defects in CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1). 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. Belongs to the cystatin family.

Protein type: Inhibitor

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: extracellular space; cytoplasm; nucleolus

Molecular Function: protease binding; endopeptidase inhibitor activity; cysteine protease inhibitor activity

Biological Process: negative regulation of proteolysis; regulation of apoptosis; adult locomotory behavior; negative regulation of peptidase activity

Disease: Myoclonic Epilepsy Of Unverricht And Lundborg