Aliases for CNGB1 Gene
- Cyclic Nucleotide Gated Channel Beta 1 2 3 5
- Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit 3 4
- Cyclic Nucleotide-Gated Cation Channel Gamma 3 4
- Cyclic Nucleotide-Gated Cation Channel 4 3 4
- Glutamic Acid-Rich Protein 2 4
- CNG Channel Beta-1 3 4
- CNCG3L 3 4
- CNCG2 3 4
- CNG-4 3 4
- CNCG4 3 4
- RCNC2 3 4
- CNG4 3 4
External Ids for CNGB1 Gene
Previous HGNC Symbols for CNGB1 Gene
Previous GeneCards Identifiers for CNGB1 Gene
In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
GeneCards Summary for CNGB1 Gene
CNGB1 (Cyclic Nucleotide Gated Channel Beta 1) is a Protein Coding gene. Diseases associated with CNGB1 include Retinitis Pigmentosa 45 and Cngb1-Related Retinitis Pigmentosa. Among its related pathways are Metabolism of fat-soluble vitamins and Organelle biogenesis and maintenance. GO annotations related to this gene include voltage-gated potassium channel activity and cGMP binding. An important paralog of this gene is CNGB3.
UniProtKB/Swiss-Prot for CNGB1 Gene
Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. 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.
Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor dark noise and allowing these sensory cells to operate at the single photon detection limit.