Cyclic Nucleotide Gated Channel Beta 3 (CNGb3)

CNGb3 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.

The 2q11 achromatopsia (ACHM2) gene (CNGA3) encodes one of a family of alpha subunits that form cyclic nucleotide-gated ion channels required for sensory transduction in rod photoreceptors and in olfactory neurons. Each of these channels is an alpha-2/beta-2 heteromeric tetramer, implying that the cone terminal also contains a beta subunit.