🧬 基因注释：ARX
📝 官方信息
官方名称：aristaless related homeobox
功能摘要：This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016].
🎯 作为靶基因的剪接因子
- ELAVL3 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录