Reference Gene
Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
---|---|---|---|---|---|---|---|
TIMP3 TIMP metallopeptidase inhibitor 3 | SFD , K222 , K222TA2 , HSMRK222 | Homo sapiens | 5 | protein-coding | TIMP4 , TIMP1 , TIMP2 | 188826 |
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]
Gene Loss events - TIMP3 (1 results)
GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
---|---|---|---|---|---|---|
GL_XT6C62 | Echinops telfairi | Gene deletion | Full | No | 10.1093/icb/icy004 |