Mouse anti-Human CSTB Monoclonal Antibody | anti-CSTB antibody
CSTB (Cystatin-B, CPI-B, Stefin B, CST6, STFB, Liver Thiol Proteinase Inhibitor, Stefin-B) (MaxLight 750)
Applications are based on unconjugated antibody.
NCBI and Uniprot Product Information
NCBI 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). 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]
Uniprot Description
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: extracellular space; cytoplasm; nucleolus
Molecular Function: protease binding; endopeptidase inhibitor activity; cysteine protease inhibitor activity
Biological Process: negative regulation of proteolysis; regulation of apoptosis; adult locomotory behavior; negative regulation of peptidase activity
Disease: Myoclonic Epilepsy Of Unverricht And Lundborg