CYBA
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000101.2 Gene Symbol CYBA
Protein Name Cytochrome b-245, alpha polypeptide
Alternate Names p22-PHOX
Gene Locus 16q24

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
39 01989 608508 1535 NetPath_M1535 1535 1WLP
2577 ENSG00000051523 P13498 CYBA

Disease name Characteristic / Associated features Category inheritance type
p22phox deficiency 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; Tissue biopsy shows granulomas; Biopsy shows lipid-laden macrophages; Deficiency or absence of cytochrome b(-245); Deficiency or absence of p22-phox protein; Negative nitroblue tetrazolium (NBT) reduction test; Decreased activity of NADPH oxidase Congenital defects of Phagocyte number, function or both Autosomal recessive