Fascin-2; retinal fascin (FSCN2)

Function

• acts as an actin bundling protein
• may play a pivotal role in photoreceptor cell-specific events, including as disk morphogenesis

Structure

belongs to the fascin family

Expression

• localized specifically in the outer & inner segments of the photoreceptor cells in the retina

Pathology

• defects in FSCN2 are the cause of retinitis pigmentosa type 30

More general terms

• cytoskeletal protein
• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/O14926.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=25794
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:25794
• OMIM: https://mirror.omim.org/entry/607643
• OMIM: https://mirror.omim.org/entry/607921