Aliases for CSTB Gene
External Ids for CSTB Gene
Previous HGNC Symbols for CSTB Gene
Previous GeneCards Identifiers for CSTB Gene
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). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
GeneCards Summary for CSTB Gene
CSTB (Cystatin B) is a Protein Coding gene. Diseases associated with CSTB include Myoclonic Epilepsy Of Unverricht And Lundborg and Unverricht-Lundborg Syndrome. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity. An important paralog of this gene is CSTA.
UniProtKB/Swiss-Prot Summary for CSTB Gene
This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.