Entrez gene ID | | 1259 |
Official gene symbol | | CNGA1 |
Full name | | cyclic nucleotide gated channel alpha 1 |
Aliases | | ,CNCG,CNCG1,CNG1,RCNC1,RCNCa,RCNCalpha,RP49, |
Gene summary | | 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] |
Location | | Chromosome: 4 Locus: 4p12-cen |
Gene position | | 48014961 - 47937994 Map Viewer |
Gene orientation | | minus |
Gene size | | 76968 bp |
Gene sequence |
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OMIM ID | | 123825 |
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