background:
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. It is essential for disk morphogenesis.
Function:
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. It is essential for disk morphogenesis.
Subunit:
Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could associate with this complex in rods. Interacts with MREG.
Subcellular Location:
Membrane; Multi-pass membrane protein.
Tissue Specificity:
Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
DISEASE:
Defects in PRPH2 are the cause of retinitis pigmentosa type 7 (RP7). RP leads to degeneration of retinal photoreceptor cells. 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.
Defects in PRPH2 are a cause of retinitis punctata albescens.
Defects in PRPH2 are a cause of adult-onset vitelliform macular dystrophy (AVMD). AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
Defects in PRPH2 are a cause of patterned dystrophy of retinal pigment epithelium (PDREP). Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.
Defects in PRPH2 are a cause of choroidal dystrophy central areolar type 2 (CACD2). It is a disorder which affects the posterior pole of the eye, and early lesions consist of a non-specific area of granular hyperpigmentation at the fovea. The characteristic sign of the disorder, a zone of atrophy that develops in the macula of the eye and involves the retinal pigment epithelium and the choriocapillaris, occurs several decades after onset.
Similarity:
Belongs to the PRPH2/ROM1 family.
Database links:
UniProtKB/Swiss-Prot: P23942.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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