Literature associating CNGA3 and congenital nystagmus
Cone photoreceptor cGMP-gated channel subunit alpha; 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 cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones; Cyclic nucleotide gated channels
Synonyms: CNGA3, CNGA3p, hCNGA3, E9PF93, Q16281 ...