🧬 基因注释：CNGA1
📝 官方信息
官方名称：cyclic nucleotide gated channel subunit alpha 1
功能摘要：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. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019].
🏥 关联疾病
该基因暂无关联疾病记录