The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3, is a protein that in humans is encoded by the NR2E3 gene. PNR is a member of the nuclear receptor super family of intracellular transcription factors.
Usherin is a protein that in humans is encoded by the USH2A gene.
Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP). In photoreceptor cells, RPGR is localized in the connecting cilium which connects the protein-synthesizing inner segment to the photosensitive outer segment and is involved in the modulation of cargo trafficked between the two segments.
ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.
Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.
PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.
Protein XRP2 is a protein that in humans is encoded by the RP2 gene.
Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.
Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.
Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.
Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.
Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.
Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.
Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.
Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.
Retinal degeneration is a retinopathy which consists in the deterioration of the retina caused by the progressive death of its cells. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P., or disease. These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.
Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness.
