Aliases for CNGA3 Gene
External Ids for CNGA3 Gene
Previous HGNC Symbols for CNGA3 Gene
Previous GeneCards Identifiers for CNGA3 Gene
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for CNGA3 Gene
CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3) is a Protein Coding gene. Diseases associated with CNGA3 include achromatopsia-2 and color blindness. 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 ligand-gated ion channel activity. An important paralog of this gene is KCNH1.
UniProtKB/Swiss-Prot for CNGA3 Gene
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.