TIMP3 Back

TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)

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NCBI Description of 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.

Community Annotation of TIMP3 Add / Edit TIMP3: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TIMP3 is highly significantly mutated in
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TIMP3 is significantly mutated in
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TIMP3 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for TIMP3