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Sodium hydrogen exchanger 9 NHE9 (SLC9A9) and its emerging roles in neuropsychiatric comorbidity.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2020-05-13 , DOI: 10.1002/ajmg.b.32787
Jameson Patak 1, 2 , Stephen V Faraone 1, 3 , Yanli Zhang-James 3
Affiliation  

Variations in SLC9A9 gene expression and protein function are associated with multiple human diseases, which range from Attention‐deficit/hyperactivity disorder (ADHD) to glioblastoma multiforme. In an effort to determine the full spectrum of human disease associations with SLC9A9 , we performed a systematic review of the literature. We also review SLC9A9's biochemistry, protein structure, and function, as well as its interacting partners with the goal of identifying mechanisms of disease and druggable targets. We report gaps in the literature regarding the genes function along with consistent trends in disease associations that can be used to further research into treating the respective diseases. We report that SLC9A9 has strong associations with neuropsychiatric diseases and various cancers. Interestingly, we find strong overlap in SLC9A9 disease associations and propose a novel role for SLC9A9 in neuropsychiatric comorbidity. In conclusion, SLC9A9 is a multifunctional protein that, through both its endosome regulatory function and its protein–protein interaction network, has the ability to modulate signaling axes, such as the PI3K pathway, among others.

中文翻译:

氢氢交换剂9 NHE9(SLC9A9)及其在神经精神病合并症中的新兴作用。

在变型SLC9A9基因表达和蛋白功能与多个人类疾病,其范围从注意缺陷/多动障碍(ADHD),以胶质母细胞瘤相关。为了确定与SLC9A9有关的人类疾病的全谱,我们对文献进行了系统的综述。我们还将审查SLC9A9的生物化学,蛋白质结构和功能,及其相互作用的伙伴,以鉴定疾病的机制和可治疗的靶标。我们报道了有关基因功能的文献中的空白,以及疾病关联的一致趋势,可用于进一步研究治疗各种疾病。我们报告说SLC9A9与神经精神疾病和各种癌症有很强的联系。有趣的是,我们在SLC9A9疾病关联中发现了强烈的重叠,并提出了SLC9A9在神经精神病合并症中的新作用。总之,SLC9A9是一种多功能蛋白,通过其内体调节功能和蛋白-蛋白相互作用网络,它们能够调节信号传导轴,例如PI3K途径等。
更新日期:2020-05-13
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