PAX5
Immune System · B-Cell Receptor Signaling & Antibody Repertoire
How does a developing immune cell become a B cell?
PAX5 controls a gene program that helps establish B-cell identity. This early developmental role supports the formation of the cells that participate in antibody responses.
- Common Gene Name
- paired box 5
- NCBI Gene ID
- 5079
- Chromosome
- 9
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (2 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| PAX5-related B lymphopenia and autism spectrum disorder | ClinGen gene-disease validity | Moderate | Autosomal recessive | View source 2023-02-28 |
| leukemia, acute lymphoblastic, susceptibility to, 3 | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2025-05-13 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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