cystatin B (stefin B)

Symbol

CSTB (may also be known as: None)

Organism

Human

Description

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). [provided by RefSeq, Jul 2008]

Orthologs

SymbolSpecies
si:ch211-161h7.6 Danio rerio
Cstb Mus musculus
Cstb Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0008344 adult locomotory behavior biological_process
GO:0010466 negative regulation of peptidase activity biological_process
GO:0010951 negative regulation of endopeptidase activity biological_process
GO:0042981 regulation of apoptotic process biological_process
GO:0005622 intracellular cellular_component
GO:0005634 nucleus cellular_component
GO:0005730 nucleolus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0002020 protease binding molecular_function
GO:0004866 endopeptidase inhibitor activity molecular_function
GO:0004869 cysteine-type endopeptidase inhibitor activity molecular_function