rs1236569285
This variant is located in the TIMP3 gene.
▶ClinVar annotation
About 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]
View all TIMP3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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