🧬 基因注释：RD3
📝 官方信息
官方名称：RD3 regulator of GUCY2D
功能摘要：This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
🏥 关联疾病
该基因暂无关联疾病记录