EFEMP1

EGF-containing fibulin-like extracellular matrix protein 1, also known as EFEMP1, is a human gene.cite web | title = Entrez Gene: EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2202| accessdate = ]

PBB_Summary
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summary_text = This gene spans approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splice patterns in the 5' UTR result in three transcript variants encoding the same extracellular matrix protein. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy.cite web | title = Entrez Gene: EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2202| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Lecka-Czernik B, Lumpkin CK, Goldstein S |title=An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis. |journal=Mol. Cell. Biol. |volume=15 |issue= 1 |pages= 120–8 |year= 1995 |pmid= 7799918 |doi=
*cite journal | author=Héon E, Piguet B, Munier F, "et al." |title=Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. |journal=Arch. Ophthalmol. |volume=114 |issue= 2 |pages= 193–8 |year= 1996 |pmid= 8573024 |doi=
*cite journal | author=Ikegawa S, Toda T, Okui K, Nakamura Y |title=Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin. |journal=Genomics |volume=35 |issue= 3 |pages= 590–2 |year= 1996 |pmid= 8812496 |doi= 10.1006/geno.1996.0402
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Stone EM, Lotery AJ, Munier FL, "et al." |title=A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. |journal=Nat. Genet. |volume=22 |issue= 2 |pages= 199–202 |year= 1999 |pmid= 10369267 |doi= 10.1038/9722
*cite journal | author=Giltay R, Timpl R, Kostka G |title=Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. |journal=Matrix Biol. |volume=18 |issue= 5 |pages= 469–80 |year= 2000 |pmid= 10601734 |doi=
*cite journal | author=Katsanis N, Venable S, Smith JR, Lupski JR |title=Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. |journal=Hum. Genet. |volume=106 |issue= 1 |pages= 66–72 |year= 2000 |pmid= 10982184 |doi=
*cite journal | author=Sauer CG, White K, Kellner U, "et al." |title=EFEMP1 is not associated with sporadic early onset drusen. |journal=Ophthalmic Genet. |volume=22 |issue= 1 |pages= 27–34 |year= 2001 |pmid= 11262647 |doi=
*cite journal | author=Matsumoto M, Traboulsi EI |title=Dominant radial drusen and Arg345Trp EFEMP1 mutation. |journal=Am. J. Ophthalmol. |volume=131 |issue= 6 |pages= 810–2 |year= 2001 |pmid= 11384588 |doi=
*cite journal | author=Tarttelin EE, Gregory-Evans CY, Bird AC, "et al." |title=Molecular genetic heterogeneity in autosomal dominant drusen. |journal=J. Med. Genet. |volume=38 |issue= 6 |pages= 381–4 |year= 2001 |pmid= 11389162 |doi=
*cite journal | author=Marmorstein LY, Munier FL, Arsenijevic Y, "et al." |title=Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 20 |pages= 13067–72 |year= 2002 |pmid= 12242346 |doi= 10.1073/pnas.202491599
*cite journal | author=Guymer RH, McNeil R, Cain M, "et al." |title=Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration. |journal=Clin. Experiment. Ophthalmol. |volume=30 |issue= 6 |pages= 419–23 |year= 2003 |pmid= 12427233 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Yuryev A, Wennogle LP |title=Novel raf kinase protein-protein interactions found by an exhaustive yeast two-hybrid analysis. |journal=Genomics |volume=81 |issue= 2 |pages= 112–25 |year= 2003 |pmid= 12620389 |doi=
*cite journal | author=Blackburn J, Tarttelin EE, Gregory-Evans CY, "et al." |title=Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 11 |pages= 4613–21 |year= 2003 |pmid= 14578376 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Klenotic PA, Munier FL, Marmorstein LY, Anand-Apte B |title=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. |journal=J. Biol. Chem. |volume=279 |issue= 29 |pages= 30469–73 |year= 2004 |pmid= 15123717 |doi= 10.1074/jbc.M403026200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Yáñez AJ, Bertinat R, Spichiger C, "et al." |title=Novel expression of liver FBPase in Langerhans islets of human and rat pancreas. |journal=J. Cell. Physiol. |volume=205 |issue= 1 |pages= 19–24 |year= 2005 |pmid= 15965961 |doi= 10.1002/jcp.20407
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209

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