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)

Kumar, Mol Vis 2004; 10:399-402 <http://www.molvis.org/molvis/v10/a50/>
©2004 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535