所属 川崎医科大学 医学部 基礎医学 生化学
|表題||Poter D. Colin, Kuribayashi Futoshi, Parkar H.Mohamed, Roos Dirk, Kinnon Christine.|
略 称：Biochem. J.
|著者・共著者||Poter D. Colin, Kuribayashi Futoshi, Parkar H.Mohamed, Roos Dirk, Kinnon Christine.|
|概要||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.|