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Table 5 Genes and proteins leading to retinal dystrophies involved in phototransduction, visual cycle and phagocytosis of rod outer segments

From: Retinitis pigmentosa and allied conditions today: a paradigm of translational research

Gene Location Protein Function % Type of RP
CNGA1 4p12 rod cGMP-gated channel alpha subunit Phototransduction 2.2 arRP
CNGB1 16q13 rod cGMP-gated channel beta subunit Phototransduction   arRP
GUCA1B 6p21.1 guanylate cyclase activating protein 1B Phototransduction   adRP, adMD
RHO 3q22.1 rhodopsin Phototransduction 19-25 adRP, arRP, dCSNB
PDE6A 5q33.1 cGMP phosphodiesterase alpha subunit Phototransduction 4 arRP
PDE6B 4q16.3 cGMP phosphodiesterase beta subunit Phototransduction 4 arRP, dCSNB
PDE6C 10q23.33 cone alpha subunit of cGMP phosphodiesterase Phototransduction   arCOD
SAG 2q37.1 arrestin Phototransduction   arRP, Oguchi disease
CNGB3 8q21.3 cone cyclic nucleotide-gated cation channel beta 3 subunit Phototransduction   arCOD
ABCA4 1p22.1 ATP-binding cassette transporter - retinal Visual cycle 2,9 arRP, arMD, arCORD
RGR 10q23.1 RPE-retinal G protein-coupled receptor Visual cycle 0,5 arRP, coroid sclerosis
RLBP1 15q26.1 retinaldehyde-binding protein 1 Visual cycle   arRP
BEST1 11q12.3 Bestrophin-1 Visual cycle   adMD (Best type)
IRBP    Visual cycle   arRP
RPE65 1p31.2 retinal pigment epithelium-specific 65 kDa protein Visual cycle 2 arRP, arLCA
CA4 17q23.2 carbonic anhydrase IV Visual cycle   adRP
RDH12 14q24.1 retinal dehydrogenase 12 Visual cycle 4 arRP
IDH3B 20p13 NAD(+)-specific isocitrate dehydrogenase 3 beta Visual cycle   arRP
ELOVL4 6q14.1 elongation of very long fatty acids protein Visual cycle   adMD
PITPNM3 17p13.2 phosphatidylinositol transfer membrane-associated family member 3 Visual cycle   adCORD
LRAT 4q32.1 lecithin retinol acyltransferase Visual cycle 0,7 arRP, arLCA
GUCY2D 17p13.22 retinal-specific guanylate cyclase 2D visual cycle 21 arLCA, adCORD
MERTK 2q13 c-mer protooncogene receptor tyrosine kinase Phagocytosis of ROS 0,6 arRP
  1. adCORD: autosomal-dominant cone and rod dystrophy; adMD: autosomal-dominant macular dystrophy; adRP: autosomal-dominant retinitis pigmentosa; arCORD: autosomal-recessive cone and rod dystrophy; arCOD: autosonal recessive cone dystrophy; arLCA: autosomal-recessive Leber's congenital amaurosis; arMD: autosomal-recessive macular dystrophy; arRP: autosomal-recessive retinitis pigmentosa; ROS: reactive oxygen species.