PAXX
PAXX (PAXX, Non-Homologous End Joining Factor) is a key component of the non-homologous end joining (NHEJ) DNA repair pathway.
Gene Information Card
| Symbol | PAXX |
|---|---|
| Full Name | PAXX, Non-Homologous End Joining Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 123920 ncbi.nlm.nih.gov/gene/123920 |
| Ensembl ID | ENSG00000188910 |
| UniProt ID | Q9BUH6 |
| OMIM ID | 615261 |
| HGNC ID | 28236 |
| Aliases | C9orf142, FLJ36208, XLS |
Description
PAXX (PAXX, Non-Homologous End Joining Factor) encodes a protein that functions in the non-homologous end joining (NHEJ) pathway of DNA double-strand break repair. PAXX interacts with Ku70/Ku80 and XRCC4, stabilizing the repair complex. It is essential for V(D)J recombination and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) | Loss-of-function mutations in PAXX impair NHEJ, leading to defective V(D)J recombination and T/B cell deficiency. | ClinVar, OMIM |
| Acute lymphoblastic leukemia (ALL) | PAXX mutations may contribute to genomic instability and leukemogenesis. | COSMIC, ClinVar |
| Breast cancer | PAXX overexpression or mutation may alter DNA repair capacity. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.1 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.3 | Leukemia cell line |
| HeLa | 11.7 | Cervical carcinoma |
| HEK293 | 9.2 | Embryonic kidney |
| MCF7 | 7.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.7C>T (p.Arg3*) | Nonsense | Rare | Loss of function; associated with SCID |
| c.160C>T (p.Arg54Trp) | Missense | <0.01% | Impaired NHEJ activity |
| c.379_380del (p.Leu127fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt PAXX protein expression or interaction with Ku/XRCC4, impairing NHEJ repair.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • double-strand break repair via nonhomologous end joining |
| • protein binding | • nucleus |
| • Ku70:Ku80 complex |
Pathways
• Non-homologous end joining (NHEJ)
• DNA double-strand break repair
Protein Summary
PAXX is a 204-amino acid protein that localizes to the nucleus and acts as a scaffold in the NHEJ pathway. It binds Ku70/Ku80 and XRCC4, promoting DNA end bridging and ligation. PAXX is critical for V(D)J recombination and maintaining genomic integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAXX Knockout HEK293 Cell Line | EDJ-KQ14691 | Human | 286257 | Details Get a Quote |
| PAXX Knockout A-549 Cell Line | EDJ-KQ44995 | Human | 286257 | Details Get a Quote |
| PAXX Knockout HCT 116 Cell Line | EDJ-KQ44996 | Human | 286257 | Details Get a Quote |
| PAXX Knockout HeLa Cell Line | EDJ-KQ44997 | Human | 286257 | Details Get a Quote |
