Predicted to enable metalloendopeptidase inhibitor activity. Involved in negative regulation of membrane protein ectodomain proteolysis. Located in collagen-containing extracellular matrix and nucleus. Implicated in Sorsby's fundus dystrophy; breast carcinoma; and urinary bladder cancer. Biomarker of several diseases, including breast cancer (multiple); lung non-small cell carcinoma (multiple); preretinal fibrosis; reproductive organ cancer (multiple); and thoracic aortic aneurysm.
RGD Description
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]