Details for: CYBB
Associated with
Other Information
Genular Protein ID: 3107619328
Symbol: CY24B_HUMAN
Name: Cytochrome b-245 heavy chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12139950
Title: CYBB mutation analysis in X-linked chronic granulomatous disease.
PubMed ID: 12139950
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 2425263
Title: Cloning the gene for an inherited human disorder -- chronic granulomatous disease -- on the basis of its chromosomal location.
PubMed ID: 2425263
DOI: 10.1038/322032a0
PubMed ID: 3600768
Title: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.
PubMed ID: 3600768
DOI: 10.1038/327717a0
PubMed ID: 9790760
Title: Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.
PubMed ID: 9790760
PubMed ID: 3600769
Title: The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.
PubMed ID: 3600769
DOI: 10.1038/327720a0
PubMed ID: 10578014
Title: Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway.
PubMed ID: 10578014
PubMed ID: 19028840
Title: Regulation of the phagocyte NADPH oxidase activity: phosphorylation of gp91phox/NOX2 by protein kinase C enhances its diaphorase activity and binding to Rac2, p67phox, and p47phox.
PubMed ID: 19028840
DOI: 10.1096/fj.08-114553
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 28351984
Title: Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.
PubMed ID: 28351984
DOI: 10.1084/jem.20161382
PubMed ID: 9224653
Title: Interaction of human neutrophil flavocytochrome b with cytosolic proteins: transferred-NOESY NMR studies of a gp91phox C-terminal peptide bound to p47phox.
PubMed ID: 9224653
DOI: 10.1042/bj3250249
PubMed ID: 2556453
Title: A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.
PubMed ID: 2556453
DOI: 10.1172/jci114393
PubMed ID: 1710153
Title: Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.
PubMed ID: 1710153
PubMed ID: 8101486
Title: 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.
PubMed ID: 8101486
DOI: 10.1007/bf01955051
PubMed ID: 7927345
Title: Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.
PubMed ID: 7927345
DOI: 10.1007/bf00201609
PubMed ID: 8182143
Title: 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.
PubMed ID: 8182143
DOI: 10.1172/jci117207
PubMed ID: 8916969
Title: Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.
PubMed ID: 8916969
PubMed ID: 9111587
Title: An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.
PubMed ID: 9111587
PubMed ID: 9585602
Title: X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
PubMed ID: 9585602
DOI: 10.1086/301874
PubMed ID: 9856476
Title: A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
PubMed ID: 9856476
PubMed ID: 9794433
Title: Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.
PubMed ID: 9794433
PubMed ID: 9667376
Title: 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.
PubMed ID: 9667376
PubMed ID: 10089913
Title: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.
PubMed ID: 10089913
PubMed ID: 9888386
Title: Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.
PubMed ID: 9888386
DOI: 10.1002/(sici)1098-1004(1999)13:1<29::aid-humu3>3.0.co;2-x
PubMed ID: 10914676
Title: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
PubMed ID: 10914676
PubMed ID: 11462241
Title: Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
PubMed ID: 11462241
DOI: 10.1002/humu.1166
PubMed ID: 11997083
Title: 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.
PubMed ID: 11997083
PubMed ID: 15338276
Title: 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.
PubMed ID: 15338276
PubMed ID: 18773283
Title: First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.
PubMed ID: 18773283
PubMed ID: 21278736
Title: Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
PubMed ID: 21278736
DOI: 10.1038/ni.1992
PubMed ID: 22125116
Title: Identification and functional characterization of two novel mutations in the alpha-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease.
PubMed ID: 22125116
DOI: 10.1002/humu.22003
PubMed ID: 23910690
Title: Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
PubMed ID: 23910690
PubMed ID: 27666509
Title: 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.
PubMed ID: 27666509
Sequence Information:
- Length: 570
- Mass: 65336
- Checksum: 7E84051BD4000CE3
- Sequence:
MGNWAVNEGL SIFVILVWLG LNVFLFVWYY RVYDIPPKFF YTRKLLGSAL ALARAPAACL NFNCMLILLP VCRNLLSFLR GSSACCSTRV RRQLDRNLTF HKMVAWMIAL HSAIHTIAHL FNVEWCVNAR VNNSDPYSVA LSELGDRQNE SYLNFARKRI KNPEGGLYLA VTLLAGITGV VITLCLILII TSSTKTIRRS YFEVFWYTHH LFVIFFIGLA IHGAERIVRG QTAESLAVHN ITVCEQKISE WGKIKECPIP QFAGNPPMTW KWIVGPMFLY LCERLVRFWR SQQKVVITKV VTHPFKTIEL QMKKKGFKME VGQYIFVKCP KVSKLEWHPF TLTSAPEEDF FSIHIRIVGD WTEGLFNACG CDKQEFQDAW KLPKIAVDGP FGTASEDVFS YEVVMLVGAG IGVTPFASIL KSVWYKYCNN ATNLKLKKIY FYWLCRDTHA FEWFADLLQL LESQMQERNN AGFLSYNIYL TGWDESQANH FAVHHDEEKD VITGLKQKTL YGRPNWDNEF KTIASQHPNT RIGVFLCGPE ALAETLSKQS ISNSESGPRG VHFIFNKENF
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.