菜单 基因医生

该基因编码的蛋白是白细胞介素1受体家族的一员，与白细胞介素1辅助蛋白相似该蛋白具有一个N端信号肽、三个细胞外免疫球蛋白Ig样结构域、一个跨膜结构域、一个细胞内Toll/IL-1R结构域和一个与多种信号分子相互作用的长C端尾该基因位于X染色体上与非综合征型X连锁智力障碍相关的区域在智障患者中发现了该基因的缺失和突变。该基因在参与海马记忆系统的产后脑结构中高水平表达，提示该基因在记忆和学习能力的生理过程中起着特殊作用，并在突触的形成和稳定中发挥作用[由RefSeq提供，2017年7月]
The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]