TIMP3, Metalloproteinase inhibitor 3, Protein MIG-5, Tissue inhibitor of metalloproteinases 3, TIMP-3
This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsbys fundus dystrophy. [provided by RefSeq, Jul 2008],disease:Defects in TIMP3 are the cause of Sorsby fundus dystrophy (SFD) [MIM:136900]. SFD is a rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years.,function:Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them. 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.,online information:Retina Internationals Scientific Newsletter,similarity:Belongs to the protease inhibitor I35 (TIMP) family.,similarity:Contains 1 NTR domain.,
