Fascin-2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''FSCN2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
This gene encodes a member of the
fascin
Fascin is an actin bundling protein.
Species and tissue distribution
It is a 54-58 kilodalton monomeric actin filament bundling protein originally isolated from sea urchin egg but also found in ''Drosophila'' and vertebrates, including ...
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.
References
Further reading
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
{{gene-17-stub