DISEASES

Disease-gene associations mined from literature

Literature associating CTSK and osteogenesis imperfecta

CTSK [ENSP00000271651]

Cathepsin K; Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation. Involved in the release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen .

Synonyms:  CTSK,  P43235,  Q5QP40,  P43235p,  hP43235 ...

Linkouts:  STRING  Pharos  UniProt  OMIM