Aliases for CNGB3 Gene
External Ids for CNGB3 Gene
Previous Symbols for CNGB3 Gene
This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
GeneCards Summary for CNGB3 Gene
CNGB3 (Cyclic Nucleotide Gated Channel Beta 3) is a Protein Coding gene. Diseases associated with CNGB3 include achromatopsia and stargardt disease, autosomal recessive. Among its related pathways are CREB Pathway and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated potassium channel activity and intracellular cAMP activated cation channel activity. An important paralog of this gene is KCNH1.
UniProtKB/Swiss-Prot for CNGB3 Gene
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.