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

Mordes, Mol Vis 2006; 12:1259-1271 <http://www.molvis.org/molvis/v12/a143/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
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