🧬 基因注释：CCDC22
📝 官方信息
官方名称：CCC complex scaffolding subunit CCDC22
功能摘要：This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013].
🎯 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