Table 3 of
Kumar, Mol Vis 2004;
10:399-402.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)
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