| Modification Notes |
Cyclic nucleotide-gated (CNG) cation channels are heteromeric complexes made up of principal alpha and modulatory beta subunits. The alpha (å) subunits consist of CNG1-3 and form functional cation channels by themselves. The beta (∫) subunits consist of CNG4-6 and, unlike the alpha subunits, do not form functional channels, but rather modify the properties of channels. formed by CNG1-3. CNG channels are essential components of olfactory and visual transduction. CNG proteins are present in cone and rod photoreceptors and in the pineal gland, and they contribute to modulating arterial blood pressure. CNG6, also designated cyclic-nucleotide-gated cation channel beta 3 (CNG-∫3), is an integral membrane protein that can form a heterooligomeric complex with CNG-3. CNG-∫3 is activated by cGMP and this activation leads to the depolarization of rod photoreceptors as a result of cation channel being opened. CNG-∫3 is expressed in a small group of retinal photoreceptor cells and in testis. Mutations in the gene encoding for CNG-∫3, can cause achromatopsia, an autosomal recessively inherited disease characterized by low visual acuity, photophobia, a lack of color discrimination, and nystagmus. |
