AAF44059.1
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Molecular Weight
11,140 Da
NCBI Official Full Name
cystatin B
UniProt Protein Name
Cystatin-B
UniProt Synonym Protein Names
CPI-B; Liver thiol proteinase inhibitor; Stefin-B
UniProt Synonym Gene Names
UniProt Entry Name
CYTB_HUMAN
UniProt Comments for CSTB
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: cytoplasm; extracellular space; nucleolus
Molecular Function: cysteine protease inhibitor activity; endopeptidase inhibitor activity; protease binding
Biological Process: adult locomotory behavior; negative regulation of peptidase activity; negative regulation of proteolysis
Disease: Myoclonic Epilepsy Of Unverricht And Lundborg
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