🧬 基因注释：VSX1
📝 官方信息
官方名称：visual system homeobox 1
功能摘要：The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [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