Description
The tissue inhibitors of metalloproteinases(TIMPs) are natural inhibitors of the matrix metalloproteinases, a group of zinc-binding endopeptidases involved in the degradation of the extracellular matrix. The TIMP3 gene is expressed in many tissues, with highest expression in the placenta. TIMP3 encodes a potent angiogenesis inhibitor and is mutated in Sorsby fundus dystrophy, a macular degenerative disease with submacular choroidal neovascularization. TIMP3 gene is mapped to 22q12.1-q13.2. Mutations in TIMP3 cause the autosomal dominant disorder Sorsby's fundus dystrophy(SFD)