Article
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.
Human genetics - 1 Oct 2004
Bionda Clara, Li Xing Jun, van Bruggen Robin, Eppink Michel, Roos Dirk, Morel Françoise, Stasia Marie-José
Abstract excerpt
Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack NADPH oxidase activity. The most common form is caused by mutations in the CYBB gene encoding gp91 phox protein, the heavy chain of cytochrome b(558), which is the redox element of NADPH oxidase. In some rare cases, the mutated gp91 phox is normally expressed but no NADPH oxidase can be detected. This type of CGD is called...
Topics
- Amino Acid Substitution
- Cell Line
- Chromosomes, Human, X
- Cytochrome b Group
- DNA Mutational Analysis
- Genetic Linkage
- Granulomatous Disease, Chronic
- Humans
- Membrane Glycoproteins
- Mutation