Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis.
Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis.
复制标题
检测 X 连锁慢性肉芽肿病患者 B 细胞系中的 gp91-phox 前体蛋白，作为损害细胞色素 b558 生物合成的突变的指标。
DOI：
10.1042/bj3150571
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
Christine Kinnon
中科院分区：
文献类型：
--
作者：
Colin D. Porter;Kuribayashi Kuribayashi;Mohamed H. Parkar;D. Roos;Christine Kinnon
NADPH oxidase cytochrome b558 consists of two subunits, gp91-phox and p22-phox, defects of which result in chronic granulomatous disease (CGD). The nature of the interaction between these subunits has yet to be determined. Absence of p22-phox in autosomal CGD patient-derived B-cell lines results in detectable levels of an incompletely glycosylated gp91-phox precursor. We have detected this same precursor species in four cell lines from patients with the X-linked form of the disease due to mutations in gp91-phox. Such mutations should delineate regions of gp91-phox important for its biosynthesis, including stable association with p22-phox. One mutation mapped to the putative FAD-binding domain, one mapped to a potential haem-binding domain, and two involved the region encoded by exon 3.
