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
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