Cyclic Nucleotide Gated Channel Alpha 3 (CNGa3)

CNGa3 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.

The CNG1 channel is activated at 40-fold higher cGMP concentrations than the CNG2 channel. Its deduced amino acid sequence was found to be 60% and 62% identical with the CNG-channel proteins from bovine rod outer segment and bovine olfactory epithelium, respectively. Northern analysis and RT-PCR showed that the CNG3 mRNA is present in testis, kidney, and heart.