Recombinant Human Cystatin-B (CSTB)

Function

This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.

Biological Context

Subcellular Location: Cytoplasm; Nucleus
Disease Association: Epilepsy, progressive myoclonic 1 (EPM1) : A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1 is an autosomal recessive form 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. [The disease is caused by variants affecting the gene represented in this entry]

Product Specifications

Recombinant Human Cystatin-B (CSTB) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-98aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 27.1kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.