CSTB Antibody (Center)

P35478; P25417; NP_000091.1; Q10994

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).

1476

H

11140

HUMAN

NP_000091.1