TIMP3 Chromosome 22
TIMP metallopeptidase inhibitor 3
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What This Gene Does
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 Info
Gene Group
Tissue inhibitor of metallopeptidases
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100234
Associated Conditions (4)
Retinal dystrophy
Sorsby fundus dystrophy
Cerebral arteriovenous malformation
Retinal disorder
Key Variants
RS137853302
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS142288050
Conflicting classifications of pathogenicity
Sorsby fundus dystrophy, Sorsby fundus dystrophy
Health Risk
RS145553035
Conflicting classifications of pathogenicity
Sorsby fundus dystrophy, Sorsby fundus dystrophy
Health Risk
RS149161075
Conflicting classifications of pathogenicity
Sorsby fundus dystrophy, Sorsby fundus dystrophy
Health Risk
RS2046600889
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2048424649
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS373801773
Conflicting classifications of pathogenicity
Health Risk
RS749890843
Conflicting classifications of pathogenicity
Sorsby fundus dystrophy, Sorsby fundus dystrophy
Health Risk
RS754619737
Conflicting classifications of pathogenicity
Health Risk
RS757458960
Conflicting classifications of pathogenicity
Health Risk
RS1555985260
Likely pathogenic
Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
Health Risk
RS2146297115
Likely pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137853302 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS142288050 | Health Risk | Conflicting classifications of pathogenicity | Sorsby fundus dystrophy, Sorsby fundus dystrophy |
| RS145553035 | Health Risk | Conflicting classifications of pathogenicity | Sorsby fundus dystrophy, Sorsby fundus dystrophy |
| RS149161075 | Health Risk | Conflicting classifications of pathogenicity | Sorsby fundus dystrophy, Sorsby fundus dystrophy |
| RS2046600889 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS2048424649 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS373801773 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749890843 | Health Risk | Conflicting classifications of pathogenicity | Sorsby fundus dystrophy, Sorsby fundus dystrophy |
| RS754619737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757458960 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555985260 | Health Risk | Likely pathogenic | Cerebral arteriovenous malformation, Cerebral arteriovenous malformation |
| RS2146297115 | Health Risk | Likely pathogenic | — |
| RS137853298 | Health Risk | Pathogenic | Sorsby fundus dystrophy, Retinal disorder, Sorsby fundus dystrophy |
| RS137853299 | Health Risk | Pathogenic | Sorsby fundus dystrophy, Sorsby fundus dystrophy |
| RS137853300 | Health Risk | Pathogenic | Sorsby fundus dystrophy, Retinal dystrophy, Sorsby fundus dystrophy |
| RS137853301 | Health Risk | Pathogenic | Sorsby fundus dystrophy, Sorsby fundus dystrophy |
| RS2048468500 | Health Risk | Pathogenic | — |
| RS1270675463 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |