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Structure and role of neutrophil cytosol factor 1 (NCF1) gene in various diseases

机译:中性粒细胞胞浆胞嘧啶因子1(NCF1)基因在各种疾病中的结构和作用

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The neutrophil cytosol factor 1 (NCF1) gene consists of 11 exons and is found in two forms; one is wild type gene and the other is pseudogene. It has more than 98% homology. Both genes occupy the same chromosome region. The mutation in this gene leads to various types of diseases such as chronic granulomatous disease, multiple sclerosis, arthritis and parasitic infection. The common mutation of this gene in most diseases is GT deletion at the start of exon 2. The NCF1 gene interact with other subunits of?nicotinamide adenine dinucleotide phosphate-oxidase? (NADPH) and play an important role in innate immunity and produce reactive oxygen species and reduce the severity and duration of parasitic infection and autoimmune disease. NCF1 also has a role in T cell activation.
机译:中性粒细胞胞嘧啶因子1(NCF1)基因由11个外显子组成,并以两种形式发现;一个是野生型基因,另一个是假蛋白。它具有超过98%的同源性。两种基因都占据了相同的染色体区域。该基因中的突变导致各种类型的疾病,例如慢性肉芽肿,多发性硬化,关节炎和寄生感染。在大多数疾病中,该基因的常见突变在外显子2开始时GT缺失。NCF1基因与其他亚氨基氨基二核苷酸磷酸酶 - 氧化酶相互作用? (NADPH)并在先天免疫力下发挥重要作用,并产生活性氧物质,降低寄生虫感染和自身免疫疾病的严重程度和持续时间。 NCF1还具有在T细胞激活中的作用。

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