FSCN2

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.

Full Name

Fascin Actin-Bundling Protein 2, Retinal

Function

Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.

Biological Process

Actin cytoskeleton organization Source: UniProtKB
Actin filament bundle assembly Source: GO_Central
Anatomical structure morphogenesis Source: ProtInc
Cell migration Source: GO_Central
Establishment or maintenance of cell polarity Source: GO_Central
Eye photoreceptor cell development Source: Ensembl
Visual perception Source: ProtInc

Cellular Location

Cytoskeleton; Stereocilium

Involvement in disease

Retinitis pigmentosa 30 (RP30):
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.