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Fascin-2 is a protein that in humans is encoded by the FSCN2gene.[5][6]
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.[6]
Tubb BE, Bardien-Kruger S, Kashork CD, et al. (2000). "Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes". Genomics. 65 (2): 146–56. doi:10.1006/geno.2000.6156. PMID10783262.
Saishin Y, Ishikawa R, Ugawa S, et al. (2000). "Retinal fascin: functional nature, subcellular distribution, and chromosomal localization". Invest. Ophthalmol. Vis. Sci. 41 (8): 2087–95. PMID10892848.
Wada Y, Abe T, Takeshita T, et al. (2001). "Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 42 (10): 2395–400. PMID11527955.
Guan Y, Woo PL, Rubenstein NM, Firestone GL (2002). "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. doi:10.1006/excr.2001.5415. PMID11795941.
Gamundi MJ, Hernan I, Maseras M, et al. (2006). "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. PMID16280978.
This page was last edited on 11 September 2022, at 04:37