The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008],caution:It is uncertain whether Met-1 or Met-5 is the initiator.,disease:Defects in CNGA1 are a cause of retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.,function:Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.,online information:Retina Internationals Scientific Newsletter,similarity:Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family.,similarity:Contains 1 cyclic nucleotide-binding domain.,subunit:Homotetramer or higher oligomer. Forms heterooligomeric complex with CNG4.,tissue specificity:Rod cells in the retina.,
