PHOX2B Antibodies

Structure of PHOX2B

PHOX2B is a transcription factor protein with a molecular weight of approximately 31 kDa. This value fluctuates to some extent among different species due to differences in the length of polyalanine repeat sequences.

This protein is composed of 314 amino acids, and its primary structure includes a homologous domain and a helical-ring-helical domain responsible for protein dimerization. The core functional structure of PHOX2B is its C-terminal homologous domain, which directly binds to the DNA target sequence through a specific helical motif. The length of the polyalanine repeat sequence at the N-terminal of the protein is crucial for the stability and function of the protein. The abnormal expansion of this region is the main pathogenic mechanism leading to congenital central hypopnea syndrome.

Fig. 1 3D modeling of the mutated PHOX2B protein.¹

Key structural properties of PHOX2B:

• Contains homology domains for specific DNA recognition and binding
• Polymerization structure with spiral - ring - screw two domains
• N-terminal polyalanine repeats determine protein stability
• Mutations mainly occur in alanine repeat regions and homologous domains

Functions of PHOX2B

The core function of the PHOX2B gene is to regulate the development and differentiation of the autonomic nervous system. Its main physiological functions include:

PHOX2B forms a regulatory network through synergistic interaction with other transcription factors (such as ASCLL), and its activation of target genes has a high sequence specificity. This characteristic determines its irreplaceable dominant position in the development of the autonomic nervous system.

Applications of PHOX2B and PHOX2B Antibody in Literature

1. Soto-Perez, J., et al. "Phox2b-expressing neurons contribute to breathing problems in Kcnq2 loss-and gain-of-function encephalopathy models." Nature Communications 14.1 (2023): 8059. https://doi.org/10.1038/s41467-023-43834-7

This study reveals that in ventral lateral neurons expressing Phox2b, the specific expression of Kcnq2 is the key factor that makes them vulnerable to pathogenic mutations. The deletion of Kcnq2 or the gain-of-function mutation R201C respectively led to enhanced resting respiration or weakened central chemical reflex in mice, which clarified the specific mechanism of abnormal respiration in KCNQ2 encephalopathy.

2. Cardani, Silvia, et al. "Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO2 chemoreflex in rats." Elife 13 (2024): RP94653. https://doi.org/10.7554/eLife.94653

This study reveals that PHOX2B in the RTN region of the respiratory center of adult rats is the key to maintaining the chemical reflex of carbon dioxide. After specifically reducing the expression of PHOX2B in this region, although it does not affect hypoxic ventilation, it will damage the ventilation response under high carbon dioxide stimulation and reduce the expression of genes related to chemical sensitivity. This indicates that PHOX2B continuously participates in respiratory regulation in adulthood, and its insufficient expression may lead to chemical reflex defects in congenital central hypopnea syndrome (CCHS).

3. Ferreira, Caroline B., et al. "Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia." Elife 11 (2022): e73130. https://doi.org/10.7554/eLife.73130

This study focuses on non-polyalanine amplification mutations (NPARM) of the PHOX2B gene. Research has found that this mutation damages the chemosensory neurons in the ventral lateral region (RTN) of mice, causing severe impairment of their ventilation response to hypoxia and hypercapnia during the neonatal period, and the hypoxia response remains partially abnormal in adulthood. This provides new evidence for revealing the pathological mechanism of this type of congenital central hypoventilation syndrome (CCHS).

4. Peggion, Sara, et al. "Revisiting Neuroblastoma: Nrf2, NF-κB and Phox2B as a Promising Network in Neuroblastoma." Current Issues in Molecular Biology 46.4 (2024): 3193-3208. https://doi.org/10.3390/cimb46040200

This review suggests that in neuroblastoma, the transcription factor Phox2B may form a key interaction triangular network with NF-κB and Nrf2. Phox2B drives the survival and proliferation of tumor cells by regulating genes such as RET. If the signal network composed of Phox2b and the other two factors is imbalanced, it may trigger a more aggressive tumor phenotype. This mechanism is expected to become a new therapeutic target.

5. Ke, Caiping, et al. "Novel PHOX2B germline mutation in childhood medulloblastoma: A case report." Hereditary Cancer in Clinical Practice 19.1 (2021): 12. https://doi.org/10.1186/s13053-021-00170-5

In this study, an 11-year-old child with medulloblastoma was found to carry a novel germline mutation of the PHOX2B gene. This mutation was confirmed by sequencing of multiple body tissue samples, and the family history was negative, suggesting that it might be a potential cause of this childhood tumor. This discovery supports the clinical value of germline mutation screening for the families of the affected children.

Creative Biolabs: PHOX2B Antibodies for Research

Creative Biolabs specializes in the production of high-quality PHOX2B antibodies for research and industrial applications. Our portfolio includes monoclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom PHOX2B Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our PHOX2B antibodies, custom preparations, or technical support, contact us at email.