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Beschreibung

Cyclic nucleotide-gated cation channel beta-1 (UniProt: Q14028, also known as Cyclic nucleotide-gated cation channel 4, CNG channel 4, CNG-4, CNG4, Cyclic nucleotide-gated cation channel gamma, Cyclic nucleotide-gated cation channel modulatory subunit, Cyclic nucleotide-gated channel beta-1, CNG channel beta-1, CNGB1, Glutamic acid-rich protein, GARP) is encoded by the CNGBI (also known as CNCG2, CNCG3L, CNCG4, RCNC2) gene in human. CNGB1 is a multi-pass membrane protein that is a subunit of cyclic nucleotide-gated (CNG) channels that are non-selective cation channels and play important roles in both visual and olfactory signal transduction. It forms a tetramer with three CNGA1 subunits. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. CNGB1 contains one cyclic nucleotide-binding domain. Four isoforms of CNGB1 have been described that are generated by alternate splicing. Mutations in CNGB1 gene are associated with retinitis pigmentosa that is characterized by retinal pigment deposits that are visible on fundus examination and case loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors.