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. 2015 Apr;4(2):139–163. doi: 10.3978/j.issn.2224-4336.2015.04.03

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.