🧬 基因注释:EYS
📝 官方信息
官方名称:EGF-like photoreceptor maintenance factor
功能摘要:The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录