DISEASES

Disease-gene associations mined from literature

Literature associating TIMP3 and cone-rod dystrophy

TIMP3 [ENSP00000266085]

Tissue inhibitor of metalloproteinases 3; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15.

Synonyms:  TIMP3,  TIMP3p,  hTIMP3,  P35625,  TIMP3-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM