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TIMP3

Function

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.

Involvement in disease

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the protease inhibitor I35 (TIMP) family.

Cellular localization

Alternative names

Metalloproteinase inhibitor 3, Protein MIG-5, Tissue inhibitor of metalloproteinases 3, TIMP-3, TIMP3

swissprot:P35625 entrezGene:7078 omim:188826