Background: Fibulin-1 is a modular glycoprotein component of elastic extracellular matrix fibers, basement membranes and blood. It can bind calcium, Fibronectin, Laminin, Nidogen and Fibrinogen. Estrogen exposure to ovarian cancer cell lines can upregulate Fibulin-1. Fibulin-2 is abundant in heart, placenta and ovarian tissue and binds several components of the extracelllar matrix including aggrecan, versican and brevican. Fibulin-3, also known as EFEMP1, is a secreted protein. Defects in the gene for Fibulin-3 cause the autosomal dominant disease Doyne honeycomb retinal dystrophy (DHRD, also known as malattia leventinese) which is characterized by yellow-white deposits (drusen) that accumulate under the retinal pigment epithelium. Fibulin-3 is not present at the site of drusen formation in normal eyes. Fibulin-5 is an integrin-binding extracellular matrix protein that mediates endothelial cell adhesion.
Immunogen: Synthetic peptide derived from human fibulin-3 protein
Purification Method: Antigen Immunoaffiinity Purification
Concentration: See vial for concentration
Formulation: Provided as solution in phosphate buffered saline with 0.08% sodium azide
References: 1. Ikegawa, S., et al. Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin. Genomics 35: 590-592 (1996)2. Stone, E.M., et al. A single EFEMP1 mutation associated with both malattia leventinese and Doyne honeycomb retinal dystrophy. Nat. Genet. 22: 199-202 (1999)3. Giltay, R., et al. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, Fibulin-3 and Fibulin-4. Matrix Biol. 18: 469-480 (1999)4. Matsumoto, M., et al. Dominant radial drusen and Arg345Trp EFEMP1 mutation. Am. J. Ophthalmol. 131: 810-812 (2001)5. Marmorstein, L.Y., et al. Aberrant accumulation of EFEMP1 underlies drusen formation in malattia leventinese and age-related macular degeneration. Proc. Natl. Acad. Sci. USA 99: 13067-13072 (2002)6. Marmorstein, L.Y., et al. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review. Ophthalmic Genet. 25: 219-226 (2004)7. Klenotic, P.A., et al. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 EFEMP1). Implications for macular degenerations. J. Biol. Chem. 279: 30469-30473 (2004)8. Narendran, N., et al. Analysis of the EFEMP1 gene in individuals and families with early onset drusen. Eye 19: 11-15 (2005)
UniProt: Q12805
Caution: This product is intended FOR RESEARCH USE ONLY, and FOR TESTS IN VITRO, not for use in diagnostic or therapeutic procedures involving humans or animals.
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