CYBB encodes cytochrome b-245 beta chain (570 aa). Catalytic subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)). Highest expression in Whole Blood (93.5 TPM) and Spleen (87.0 TPM).

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency is associated with mutations in the CYBB gene on chromosome X.

The CYBB protein participates in RHO GTPases Activate NADPH Oxidases pathway.

CYBB is classified as a druggable target (Druggable Genome, Enzyme, Ion Channel, and Transporter categories) with score 3.5.

Genetic testing for CYBB is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 very common feature.

No clinical trials have been registered for X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency.

4 publications have been identified in PubMed for X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Roosens W (2026). [PMID: 41765213](https://pubmed.ncbi.nlm.nih.gov/41765213/). *Clin Immunol*. [Case Report / Case Series]

• Raghuraman K (2025). [PMID: 40656276](https://pubmed.ncbi.nlm.nih.gov/40656276/). *Cureus*. [Review / Meta-Analysis]

• Wang H (2025). [PMID: 41433053](https://pubmed.ncbi.nlm.nih.gov/41433053/). *Genomics Proteomics Bioinformatics*. [Basic Science / Preclinical]

• Gemici Karaaslan B (2024). [PMID: 39183693](https://pubmed.ncbi.nlm.nih.gov/39183693/). *Balkan Med J*. [Review / Meta-Analysis]