Table 1 of
Mordes, Mol Vis 2006;
12:1259-1271.
Table 1.
Genes identified in autosomal dominant retinitis pigmentosa.
RP Chromosomal References Gene Name Protein function Expression pattern locus location --------- ---------------------- ---------------------- ----- ----------- ----------- RHO Rhodopsin, Photoreceptor-specific RP4 3q21-q24 [18] phototransduction RDS Peripherin/RDS, Photoreceptor-specific RP7 6p21.1-cen [96] photoreceptor structural protein ROM1 Retinal outer segment Photoreceptor-specific 11q13 [97] membrane protein 1, Photoreceptor structural protein FSCN2 Fascin2, crosslinking Photoreceptor-specific 17q25 [78] and bundling F-actin CRX cone-rod otx-like Photoreceptor-specific 19q13.3 [60] homeobox transcription factor NRL neural retina leucine Photoreceptor-specific RP27 14q11.2 [98] zipper transcription factor RP1 A protein with Photoreceptor-specific RP1 8q11-q13 [99-101] similarity to doublecortin, microtubule-associated protein IMPDH1 Inosine monoposphate A range of tissues RP10 7q31.1 [102,103] dehydrogenase 1, including retina, catalyzing the lung, thymus, and rate-limiting step in brain guanine synthesis PRPF31 Pre-mRNA splicing ubiquitous RP11 19q13.4 [10] factor HPRP3 Pre-mRNA splicing ubiquitous RP18 1q21.1 [12] factor PRPC8 Pre-mRNA splicing ubiquitous RP13 17p13.3 [11] factor PAP1 Associated with HPRP3, ubiquitous RP9 7p15.1-p13 [14,85,88] possible pre-mRNA splicing factor |