Gene Symbol | CNGA1 |
Entrez Gene ID | 1259 |
Full Name | cyclic nucleotide gated channel alpha 1 |
Synonyms | CNCG,CNCG1,CNG-1,CNG1,RCNC1,RCNCa,RCNCalpha,RP49 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Dec 2008]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 49, 613756 (3) |