DISEASES

Disease-gene associations mined from literature

Literature associating CSTB and juvenile myoclonic epilepsy

CSTB [ENSP00000291568]

Liver thiol proteinase inhibitor; This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B; Belongs to the cystatin family.

Synonyms:  CSTB,  P04080,  Q76LA1,  CST6,  P04080p ...

Linkouts:  STRING  Pharos  UniProt  OMIM