Table 3. Disease genes: human cone and cone-rod dystrophy.
Gene~ | Inheritance* | Potential function | Studies |
---|---|---|---|
GUCA1A | Dominant | Phototransduction | (159,160) |
GUCY2D | Dominant | Phototransduction | (161,162) |
PDE6C | Recessive | Phototransduction | (163) |
PDE6H | Recessive | Phototransduction | (164,165) |
CNGB3 | Recessive | Phototransduction | (166,167) |
PRPH2 | Dominant | Phototransduction | (168,169) |
ABCA4 | Recessive | Retinal Metabolism | (170,171) |
RDH5 | Recessive | Retinal metabolism | (172,173) |
CRX | Dominant | Transcription factor | (130,131) |
RAX2 | Recessive | Transcription | (174,175) |
RPGRIP1 | Recessive | Interacts with RPGR | (176) |
ADAM9 | Recessive | Cell/matrix interaction | (177) |
AIPL1 | Dominant | Transport, protein trafficking | (178,179) |
TTLL5 | Recessive | Cilia function | (180) |
CACNA1F | X-Linked | Calcium channel | (181) |
CACNA2D4 | Recessive | Ion channel | (142) |
HRG4 | Dominant | Neurotransmitter release | (182) |
KCNV2 | Recessive | Ion channel subunit | (183,184) |
RIMS1 | Dominant | Neurotransmitter release | (185,186) |
PITPNM3 | Dominant | Transport | (187) |
SEMA4A | Dominant & recessive | Axon guidance | (62,188) |
CERKL | Recessive | Cell signalling | (189) |
RPGR | Dominant & recessive | Intraflagellar transport | (190,191) |
PROM1 | Dominant | Cellular structure | (192,193) |
CDHR1 | Recessive | Cellular structure | (194,195) |
C21orf2 | Recessive | Unknown | (120) |
C8orf37 | Recessive | Unknown | (114,115) |
CNNM4 | Recessive | Unknown | (196,197) |
RAB28 | Recessive | Unknown | (198,199) |
~, adapted from source https://sph.uth.edu/Retnet/; *, dominant, autosomal dominant; recessive, autosomal recessive.