Peripherin 2

Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family.

Tetraspanins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.

It is located in the rim regions of the flattened disks that contain rhodopsin, which is the protein that is responsible for initiation of visual phototransduction upon reception of light.

Peripherin 2 may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim.