功能： disease:Defects in CNGA3 are the cause of achromatopsia type 2 (ACHM2) [MIM:216900]; also known as total colorblindness or rod monochromacy (RMCH2). ACHM2 is an autosomal recessive condition characterized by day blindness and photophobia. In ACHM2 patients the cones are defective and the subjects see better at night.,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 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.,online information:Retina International's 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:Tetramer formed of two CNGA3 and two CNGB3 modulatory subunits.,tissue specificity:Prominently expressed in retina.,
功能： disease:Defects in CNGA3 are the cause of achromatopsia type 2 (ACHM2) [MIM:216900]; also known as total colorblindness or rod monochromacy (RMCH2). ACHM2 is an autosomal recessive condition characterized by day blindness and photophobia. In ACHM2 patients the cones are defective and the subjects see better at night.,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 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.,online information:Retina International's 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:Tetramer formed of two CNGA3 and two CNGB3 modulatory subunits.,tissue specificity:Prominently expressed in retina.,
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