Peripherin-2 (PRPH2)

Peripherin-2 (PRPH2) is a photoreceptor-specific tetraspanin membrane glycoprotein localized to the rims of rod and cone outer segment discs in the retina[1][2][3][4]. It is a structural protein essential for the morphogenesis, curvature, and stabilization of disc membranes, supporting vision by maintaining the architecture of light-sensing compartments in photoreceptors[1][2][3][4]. PRPH2 forms homo- and hetero-oligomeric complexes—especially with the related protein ROM1—enabling development and maintenance of the disc rim structures[1][3][5]. Mutations in PRPH2 cause a broad spectrum of inherited retinal degenerative diseases, including retinitis pigmentosa, macular dystrophy, and cone-rod dystrophy, through progressive photoreceptor degeneration[1][3][4]. PRPH2 is thus a critical factor and adverse event risk for vision loss in these diseases; patient genotype can guide diagnosis and potentially future therapeutic interventions such as gene therapy[4][1][3][5]. No direct pharmacological drugs are currently approved for targeting PRPH2 malfunction.

Other names

Retinal degeneration slow protein (RDS)tetraspanin-22 (TSPAN22)ROM2peripherinphotoreceptor typecentral areolar choroidal dystrophy 2 (CACD2)choroidal dystrophyAOFMDAVMDDSMDBS1RP7rd2

No established direct pharmacological mechanism of action for drugs targeting PRPH2.