CYBB
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000397.3 Gene Symbol CYBB
Protein Name Cytochrome b-245, beta polypeptide (chronic granulomatous disease)
Alternate Names CGD, GP91-1, GP91-PHOX, GP91PHOX, NOX2
Gene Locus Xp21.1

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
38 02382 300481 1536 NetPath_M1536 1536 -
2578 ENSG00000165168 P04839 CYBB

Disease name Characteristic / Associated features Category inheritance type
X-linked chronic granulomatous disease Pneumonia due to immunodeficiency; Hepatic abscesses due to immunodeficiency; Hepatomegaly; Splenomegaly; Perirectal abscesses due to immunodeficiency; Osteomyelitis due to immunodeficiency; Dermatitis, infectious, due to immunodeficiency; Impetigo; Eczematoid dermatitis; Discoid lupus in carriers or adults with mild disease; Cellulitis due to immunodeficiency; Recurrent bacterial infections; Fungal infections, recurrent; Absence of bactericidal oxidative respiratory burst in phagocytes; Abscess formation in any organ; Lymphadenitis; Lymphadenopathy; Aspergillus infections; Klebsiella infections; Staphylococcus aureus infections; E. coli infections; Burkholderia cepacia infections; Serratia marcescens infections; Isolated susceptibility to mycobacterial infection; Tissue biopsy shows granulomas; Biopsy shows lipid-laden macrophages; Deficiency or absence of cytochrome b(-245); Deficiency or absence of p91-phox protein; Negative nitroblue tetrazolium (NBT) reduction test; Decreased activity of NADPH oxidase Congenital defects of Phagocyte number, function or both X-linked recessive