Literature associating CNGB3 and Leber congenital amaurosis
Cyclic nucleotide-gated cation channel modulatory subunit; Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod 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 efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones; Cyclic nucleotide gated channels
Synonyms: CNGB3, CNGB3p, hCNGB3, H0YAZ4, Q9NQW8 ...