Biology:FSCN2
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.[1][2]
This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene.[2]
References
- ↑ "Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin". Eur J Hum Genet 7 (3): 332–8. Jun 1999. doi:10.1038/sj.ejhg.5200302. PMID 10234509.
- ↑ 2.0 2.1 "Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25794.
Further reading
- "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. 1997. doi:10.1101/gr.6.9.807. PMID 8889549.
- "Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes.". Genomics 65 (2): 146–56. 2000. doi:10.1006/geno.2000.6156. PMID 10783262.
- "Retinal fascin: functional nature, subcellular distribution, and chromosomal localization.". Invest. Ophthalmol. Vis. Sci. 41 (8): 2087–95. 2000. PMID 10892848.
- "Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.". Invest. Ophthalmol. Vis. Sci. 42 (10): 2395–400. 2001. PMID 11527955.
- "Transforming growth factor-alpha abrogates the glucocorticoid stimulation of tight junction formation and reverses the steroid-induced down-regulation of fascin in rat mammary epithelial tumor cells by a Ras-dependent pathway.". Exp. Cell Res. 273 (1): 1–11. 2002. doi:10.1006/excr.2001.5415. PMID 11795941.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene.". Arch. Ophthalmol. 121 (11): 1613–20. 2003. doi:10.1001/archopht.121.11.1613. PMID 14609921.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.". Mol. Vis. 11: 922–8. 2006. PMID 16280978.
- "The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.". Invest. Ophthalmol. Vis. Sci. 48 (2): 530–3. 2007. doi:10.1167/iovs.06-0669. PMID 17251446.
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