Gene: CYBB

Alternate names for this Gene: AMCBX2|CGD|GP91-1|GP91-PHOX|GP91PHOX|IMD34|NOX2|p91-PHOX

Gene Summary: Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole.

Gene is located in Chromosome: X

Location in Chromosome : Xp21.1-p11.4

Description of this Gene: cytochrome b-245 beta chain

Type of Gene: protein-coding

rs151344497 in CYBB gene and Atypical Mycobacteriosis, Familial, X-Linked 2 PMID 21278736 2011 Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

rs151344497 in CYBB gene and Chronic granulomatous disease PMID 21278736 2011 Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

rs137854585 in CYBB gene and Granulomatous Disease, Chronic, X-Linked PMID 10089913 1999 Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.

PMID 11462241 2001 Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

PMID 7927345 1994 Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.

PMID 9667376 1998 Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.

PMID 9111587 1997 An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.

PMID 10914676 2000 Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

PMID 8182143 1994 A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

PMID 9888386 1999 Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

PMID 9794433 1998 Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.

PMID 27666509 2016 A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.

PMID 8101486 1993 A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.

PMID 11997083 2002 Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

PMID 8916969 1996 Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.

PMID 2556453 1989 A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.

PMID 9585602 1998 X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

PMID 18773283 2009 First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.

PMID 1710153 1991 Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

PMID 22125116 2012 Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease.

PMID 23910690 2013 Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

PMID 15338276 2004 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.

PMID 24999735 2014 Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.

PMID 26453586 2015 Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in a Patient with Chronic Granulomatous Disease and Active Infection: A First Report.

PMID 1347621 1992 Studying X inactivation.

PMID 20729109 2010 Hematologically important mutations: X-linked chronic granulomatous disease (third update).

PMID 18546332 2008 Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

PMID 21190454 2010 Residual NADPH oxidase and survival in chronic granulomatous disease.

PMID 29560547 2018 A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).

PMID 23859418 2013 X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother.

PMID 22924737 2012 Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling.

PMID 22540226 2012 High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.

PMID 20724480 2010 Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly.

PMID 28168067 2017 Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes.

PMID 12589359 2003 Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.

PMID 11162142 2001 Hematologically important mutations: X-linked chronic granulomatous disease (second update).

PMID 23956436 2013 Persistence of the bacterial pathogen Granulibacter bethesdensis in chronic granulomatous disease monocytes and macrophages lacking a functional NADPH oxidase.

PMID 8634410 1996 Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

PMID 10627478 2000 Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly.

PMID 11112388 2000 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

PMID 14697745 2003 Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation.

PMID 30633606 2019 Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease.

PMID 28251166 2017 Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.

PMID 23193493 2012 Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease.

PMID 19483051 2009 Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease.

PMID 11435314 2001 Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.

PMID 27701760 2017 Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.