🧬 基因注释：CABP4
📝 官方信息
官方名称：calcium binding protein 4
功能摘要：This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].
🎯 作为靶基因的剪接因子
- Rbmx 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录