TIMP3

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]

TIMP3 Gene(Protein Coding) TIMP Metallopeptidase Inhibitor 3

Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. 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.

Biological Process cellular response to organic substanceSource:Ensembl
Biological Process negative regulation of endopeptidase activitySource:GO_Central1 Publication
Biological Process negative regulation of ERK1 and ERK2 cascadeSource:BHF-UCL1 Publication
Biological Process negative regulation of membrane protein ectodomain proteolysisSource:BHF-UCL1 Publication
Biological Process negative regulation of metalloendopeptidase activitySource:BHF-UCL
Biological Process positive regulation of TRAIL-activated apoptotic signaling pathwaySource:BHF-UCL1 Publication
Biological Process response to cytokineSource:GO_Central1 Publication
Biological Process response to hormoneSource:GO_Central1 Publication
Biological Process response to organic substanceSource:GO_Central1 Publication
Biological Process visual perceptionSource:UniProtKB-KW

Secreted, extracellular space, extracellular matrix

Sorsby fundus dystrophy (SFD):
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.