PRPH2 : peripherin 2
Description
The PRPH2 (peripherin 2) is a protein-coding gene located on chromosome 6.
The PRPH2 gene provides instructions for making a protein called peripherin 2, which plays a crucial role in vision. Located in the retina, peripherin 2 is essential for the function of photoreceptor cells, which detect light and color. Within these cells, it participates in the formation and stability of structures that contain light-sensing pigments.
PRPH2 is crucial for the formation of the outer segment disks in photoreceptor cells within the retina. In conjunction with ROM1, it contributes to the maintenance of these disk structures. It also plays a role in sustaining the thickness of the retinal outer nuclear layer and ensuring the correct development and organization of the photoreceptor inner segment.
PRPH2 is also known as AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2.
Associated Diseases
- Macular dystrophy, patterned, 1
- Cone rod dystrophy
- Retinitis pigmentosa 7
- Macular dystrophy, vitelliform, 3
- Fundus albipunctatus
- Retinitis punctata albescens
- Retinitis pigmentosa
- Stargardt disease
- Adult-onset foveomacular vitelliform dystrophy
- Choroidal dystrophy, central areolar 2
- Central areolar choroidal dystrophy
- Vitelliform macular dystrophy
- Cone-rod dystrophy
