Table 3 of
Kumar, Mol Vis 2004;
10:399-402.
Table 3. Known arRP loci and genes
Summary of 22 known arRP loci and 17 known genes responsible for autosomal recessive retinitis pigmentosa.
Serial Chromosome number Locus location Gene ------ ----- ------------ ----------------------------------------------- 1 RP20 1p31.2 RPE65 (retinal-pigment epithelium-specific 65 kDa protein) 2 RP19 1p22.1 ABCR (ATP-binding cassette transporter-retinal) 3 RP12 1q31.3 CRB1 (crumbs homolog 1) 4 1q41 USH2A (encoding a protein with lamin FGF and fibronectin type III domain) 5 RP28 2p14-p15 6 2q13 MERTK (c-mer protooncogene, receptor kinase) 7 RP26 2q31.2-q32.3 8 2q37.1 SAG (arrestin s-antigen) 9 RP4 3q22.1 RHO (rhodopsin) 10 4p16.3 PDE6B (rod cGMP phosphodiesterase b-subunit) 11 4p12 CNGAI (cyclic nucleotide-gated channel alpha subunit) 12 4q32.1 LRAT (lecithin retinal acyltransferase) 13 RP29 4q32-q34 14 5q33.1 PDE6A (rod cGMP-gated channel alpha subunit) 15 RP14 6p21.31 TULP1 (tubby-like protein 1) 16 RP25 6cen-q15 17 8q12.3 TTPA (tocopherol transfer protein, alpha) 18 10q23.1 RGR (RPE-retinal G protein-coupled receptor) 19 15q23 NR2E3 (nuclear receptor subfamily 2 group E3) 20 15q26.1 RLBP1 (cellular retinaldehyde-binding protein) 21 RP22 16p12.1-p12.3 22 16q13 CNGB1 (cyclic nucleotide-gated channel, beta-1) |