PRPH2

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PRPH2

A gene on chromosome 6p21.2-cen that encodes peripherin 2, a member of the tetraspanin (cell surface) protein family, which mediate signal transduction events. These events play a role in regulating cell development, activation, growth and motility. Peripherin 2 is present in the outer segment of rod and cone photoreceptor cells, and it may act as an adhesion molecule involved in stabilisation and compaction of outer
segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis. 

Molecular pathology
Defects of PRPH2 are associated with a variety of retinal disorders, including adult-onset vitelliform macular dystrophy, central areolar choroidal dystrophy type 2, patterned dystrophy of retinal pigment epithelium, retinitis pigmentosa type 7, retinitis punctata albescens, as well as cone-rod dystrophy and macular degeneration.
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References in periodicals archive ?
On day 28 post p75 sorting, dual immunofluorescence identified sympathetic neurons by PRPH and TH copositivity cells in H9 cells (Figure 6(b-i)) in up to 20% cells.
The presence of TH and PRPH costaining or DBH and PHOX2B was used to identify catecholaminergic and noradrenergic sympathetic neurons, respectively.
BMP: Bone morphogenetic protein hESC: Human embryonic stem cells DBH: Dopamine betahydroxylase NCAM: Neural cell adhesion molecule SDIA: Stromal-derived inducing activity PRPH: Peripherin SNS: Sympathetic nervous system TH: Tyrosine hydroxylase.
Abbreviations MOC: Medial olivocochlear SGNs: Spiral ganglion neurons OHCs: Outer hair cells DPOAEs: Distortion product otoacoustic emissions Prph: Peripherin gene PBS: Phosphate-buffered saline EDTA: Ethylenediaminetetraacetic acid OCT: Optimal cutting temperature compound Tuj1: Tubulin [beta]3 Prph: Peripherin protein ANOVA: Analysis of variance.
(a-c) Representative image of Tuj1 and Prph immunostaining in spiral ganglion cells of the control group.