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. Note: This description may include information from UniProtKB.
Protein type: Inhibitor
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component:  cytoplasm; cytosol; extracellular region; extracellular space; ficolin-1-rich granule lumen; nucleolus; secretory granule lumen; tertiary granule lumen
Molecular Function:  cysteine-type endopeptidase inhibitor activity; endopeptidase inhibitor activity; protease binding
Biological Process:  adult locomotory behavior; negative regulation of endopeptidase activity; negative regulation of peptidase activity; negative regulation of proteolysis; neutrophil degranulation
Disease: Myoclonic Epilepsy Of Unverricht And Lundborg
Reference #:  P04080 (UniProtKB)
Alt. Names/Synonyms: CPI-B; CST6; CSTB; cystatin B (stefin B); Cystatin-B; CYTB; EPM1; Liver thiol proteinase inhibitor; PME; stefin B; Stefin-B; STFB
Gene Symbols: CSTB
Molecular weight: 11,140 Da
Basal Isoelectric point: 6.96  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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