Article
A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression.
Frontiers in immunology - 1 Jan 2022
Zhang Kaihui, Kang Lili, Zhang Haozheng, Bai Lu, Pang Huanping, Liu Qinghua, Zhang Xinyi, Chen Dong, Yu Haihua, Lv Yuqiang, Gao Min, Liu Yi, Gai Zhongtao, Wang Dong, Li Xiaoying
Abstract excerpt
Phosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the PI4KA gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. PI4KA mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions (OMIM:619621, 616531, 619708). We detected sepsis, severe diarrhea, and...
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