FSCN2
Description
The FSCN2 (fascin actin-bundling protein 2, retinal) is a protein-coding gene located on chromosome 17.
The FSCN2 gene encodes Fascin-2, a protein belonging to the fascin family. Fascins are known to organize actin filaments into bundles within dynamic cellular structures. Fascin-2 is believed to be involved in the development of photoreceptor disks, specialized structures within the eye responsible for light detection. Mutations in the FSCN2 gene have been linked to autosomal dominant retinitis pigmentosa and macular degeneration, highlighting its importance in maintaining healthy retinal function. Multiple variants of the FSCN2 gene have been identified, resulting in different isoforms of the Fascin-2 protein.
FSCN2 is also known as RFSN, RP30.
