🧬 基因注释：NLRP12
📝 官方信息
官方名称：NLR family pyrin domain containing 12
功能摘要：This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013].
🎯 作为靶基因的剪接因子
- RBFOX2 置信度: 2.0
🏥 关联疾病
该基因暂无关联疾病记录