TIMP3
| TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | TIMP3 ; HSMRK222; K222; K222TA2; SFD | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 36322 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE TIMP3 201149 s at tn.png | |||||||||||
| File:PBB GE TIMP3 201147 s at tn.png | |||||||||||
| File:PBB GE TIMP3 201148 s at tn.png | |||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory), also known as TIMP3, is a human gene.
This gene belongs to the tissue inhibitor of metalloproteinases 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.[1]
References
Further reading
- Li Z, Clarke MP, Barker MD, McKie N (2007). "TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights". Expert reviews in molecular medicine. 7 (24): 1–15. doi:10.1017/S1462399405010045. PMID 16259644.
- Docherty AJ, Lyons A, Smith BJ; et al. (1985). "Sequence of human tissue inhibitor of metalloproteinases and its identity to erythroid-potentiating activity". Nature. 318 (6041): 66–9. PMID 3903517.
- Forsius HR, Eriksson AW, Suvanto EA, Alanko HI (1983). "Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance". Am. J. Ophthalmol. 94 (5): 634–49. PMID 7148944.
- Wick M, Härönen R, Mumberg D; et al. (1995). "Structure of the human TIMP-3 gene and its cell cycle-regulated promoter". Biochem. J. 311 ( Pt 2): 549–54. PMID 7487894.
- Jacobson SG, Cideciyan AV, Regunath G; et al. (1995). "Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.". Nat. Genet. 11 (1): 27–32. doi:10.1038/ng0995-27. PMID 7550309.
- Higuchi T, Kanzaki H, Nakayama H; et al. (1995). "Induction of tissue inhibitor of metalloproteinase 3 gene expression during in vitro decidualization of human endometrial stromal cells". Endocrinology. 136 (11): 4973–81. PMID 7588231.
- Wilde CG, Hawkins PR, Coleman RT; et al. (1995). "Cloning and characterization of human tissue inhibitor of metalloproteinases-3". DNA Cell Biol. 13 (7): 711–8. PMID 7772252.
- Apte SS, Olsen BR, Murphy G (1995). "The gene structure of tissue inhibitor of metalloproteinases (TIMP)-3 and its inhibitory activities define the distinct TIMP gene family". J. Biol. Chem. 270 (24): 14313–8. PMID 7782289.
- Kishnani NS, Staskus PW, Yang TT; et al. (1995). "Identification and characterization of human tissue inhibitor of metalloproteinase-3 and detection of three additional metalloproteinase inhibitor activities in extracellular matrix". Matrix Biol. 14 (6): 479–88. PMID 7795886.
- Weber BH, Vogt G, Pruett RC; et al. (1995). "Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy". Nat. Genet. 8 (4): 352–6. doi:10.1038/ng1294-352. PMID 7894485.
- Weber BH, Vogt G, Wolz W; et al. (1994). "Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter". Nat. Genet. 7 (2): 158–61. doi:10.1038/ng0694-158. PMID 7920634.
- Jones SE, Jomary C, Neal MJ (1994). "Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa". FEBS Lett. 352 (2): 171–4. PMID 7925969.
- Wick M, Bürger C, Brüsselbach S; et al. (1994). "A novel member of human tissue inhibitor of metalloproteinases (TIMP) gene family is regulated during G1 progression, mitogenic stimulation, differentiation, and senescence". J. Biol. Chem. 269 (29): 18953–60. PMID 8034652.
- Silbiger SM, Jacobsen VL, Cupples RL, Koski RA (1994). "Cloning of cDNAs encoding human TIMP-3, a novel member of the tissue inhibitor of metalloproteinase family". Gene. 141 (2): 293–7. PMID 8163205.
- Uría JA, Ferrando AA, Velasco G; et al. (1994). "Structure and expression in breast tumors of human TIMP-3, a new member of the metalloproteinase inhibitor family". Cancer Res. 54 (8): 2091–4. PMID 8174111.
- Apte SS, Mattei MG, Olsen BR (1994). "Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22". Genomics. 19 (1): 86–90. doi:10.1006/geno.1994.1016. PMID 8188246.
- Byrne JA, Tomasetto C, Rouyer N; et al. (1996). "The tissue inhibitor of metalloproteinases-3 gene in breast carcinoma: identification of multiple polyadenylation sites and a stromal pattern of expression". Mol. Med. 1 (4): 418–27. PMID 8521299.
- Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Felbor U, Stöhr H, Amann T; et al. (1996). "A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features". Hum. Mol. Genet. 4 (12): 2415–6. PMID 8634721.
- Carrero-Valenzuela RD, Klein ML, Weleber RG; et al. (1996). "Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3". Arch. Ophthalmol. 114 (6): 737–8. PMID 8639088.
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