Gene Symbol | TIMP3 |
Entrez Gene ID | 7078 |
Full Name | TIMP metallopeptidase inhibitor 3 |
Synonyms | HSMRK222,K222,K222TA2,SFD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Sorsby fundus dystrophy, 136900 (3) |