🧬 基因注释：OPN1SW
📝 官方信息
官方名称：opsin 1, short wave sensitive
功能摘要：This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
🏥 关联疾病
该基因暂无关联疾病记录