We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
RNA tissue category: Group enriched (cervix, uterine, esophagus, tonsil)
GENE INFORMATION
Gene name
CSTB (HGNC Symbol)
Synonyms
CST6, EPM1, PME, STFB
Description
Cystatin B (stefin B) (HGNC Symbol)
Entrez gene summary
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]
P04080 [Direct mapping] Cystatin-B Q76LA1 [Target identity:100%; Query identity:100%] CSTB protein; Cystatin B; Cystatin B (Stefin B); Cystatin B (Stefin B), isoform CRA_a; cDNA, FLJ92415, Homo sapiens cystatin B (stefin B) (CSTB), mRNA
Show all
Transporters Transporter channels and pores Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
