Description
Product Characteristics: TIMP3(Metalloproteinase inhibitor 3) complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them. TIMP3 may form part of a tissue-specific acute response to remodeling stimuli. TIMP3 is known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15. Defects in TIMP3 are the cause of Sorsby's fundus dystrophy (SFD). 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 occular tissues.
Target Information: 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 Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]