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.
References in periodicals archive ?
The child had to say RC2 ("Syria") or RD2 ("Damascus"), accordingly.
The child had to say RC1 ("Qatar"), RC2 ("Syria), RD1 ("Doha"), or RD2 ("Damascus"), accordingly.
orygis, which is otherwise characterized by the presence of genomic regions RD1, RD2, RD4, RD5a (Rv2348), RD6, RD13-RD16, and the mmpL6551AAG polymorphism, with absence of regions RD3, RD5b (plcA), RD7-RD12, RDoryx_1, RDoryx_4, and RDoryx_wag22.
7-kb region that codes for the mce3 operon is located near the 3' end of the RD2 element (32) that is present in M.
We chose open source content management system WordPress to power the RD2 blog because of its emphasis on reliability, adaptability, and usability," stated Ronan.
The RD2 approach of Research, Design and Develop, integrates objective research with aesthetics to develop compelling brand solutions that position RD2 clients as industry leaders.
The RD2 Reference Design Platform provides customers with a complete system solution that allows design flexibility while addressing the critical time-to-market issues faced by original equipment manufacturers (OEMs).
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Upon starting TOCA RD2 you find yourself straight at the wheel of a Ford racing car for one lap.
58 (town of Dunkirk, Petite-Synthe) via RD2 with creation an exchange point (roundabout) and a bridge crossing the channel Bourbourg and related infrastructure.