Aliases for CNGA1 Gene
External Ids for CNGA1 Gene
Previous HGNC Symbols for CNGA1 Gene
Previous GeneCards Identifiers for CNGA1 Gene
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
GeneCards Summary for CNGA1 Gene
CNGA1 (Cyclic Nucleotide Gated Channel Alpha 1) is a Protein Coding gene. Diseases associated with CNGA1 include retinitis pigmentosa 49 and cnga1-related retinitis pigmentosa. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. GO annotations related to this gene include ion channel activity and cGMP binding. An important paralog of this gene is KCNH1.
UniProtKB/Swiss-Prot for CNGA1 Gene
Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.