A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.
We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion.
Kuribayashi
F
F
Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, University of Amsterdam, The Netherlands.
de Boer
M
M
Leusen
J H
JH
Verhoeven
A J
AJ
Roos
D
D
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000097:blood / Q000737:chemistry / Q000302:isolation & purification; D017931:DNA Primers; D004587:Electrophoresis, Agar Gel; D005091:Exons; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000097:blood / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014960:X Chromosome
D017931:DNA Primers; D008562:Membrane Glycoproteins; D004247:DNA; D009247:NADH, NADPH Oxidoreductases; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases