TIMP3

From Wikipedia, the free encyclopedia

TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)

Identifiers

TIMP3; HSMRK222; K222; K222TA2; SFD

External IDs

OMIM: 188826 MGI: 98754 HomoloGene: 36322

Gene ontology
Molecular Function:	• molecular_function • enzyme inhibitor activity • metalloendopeptidase inhibitor activity
Cellular Component:	• proteinaceous extracellular matrix • basement membrane
Biological Process:	• transmembrane receptor protein tyrosine kinase signaling pathway • visual perception • induction of apoptosis by extracellular signals • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000362 (mRNA)
NP_000353 (protein)

NM_011595 (mRNA)
NP_035725 (protein)

Location

Chr 22: 31.53 - 31.59 Mb

Chr 10: 85.73 - 85.78 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ Entrez Gene: TIMP3 TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory).

[edit] 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.