Cystatin B
- CSTB redirects here. It can also refer to the Trade Union Confederation of Bolivian Workers.
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Cystatin-B is a protein that in humans is encoded by the CSTB gene.[1][2]
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).[2]
Interactions
Cystatin B has been shown to interact with Cathepsin B.[3][4]
References
Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Unverricht-Lundborg Disease or EPM1
- The MEROPS online database for peptidases and their inhibitors: I25.003
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