PHOX2B抗体;PHOX2B Antibody—艾普蒂

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     Western blot analysis of PHOX2B expression in Neuro-2a cell lysate.    

  
  

The PHOX2B antibody is a critical tool in neuroscience and oncology research, targeting the protein product of the PHOX2B gene, a transcription factor essential for autonomic nervous system development. PHOX2B encodes a homeodomain-containing protein that regulates the differentiation and survival of neurons in neural crest-derived structures, including sympathetic ganglia, parasympathetic neurons, and enteric nervous system precursors. Its expression is tightly linked to the development of noradrenergic neurons and the establishment of respiratory control circuits.

Clinically, PHOX2B is a biomarker for neuroblastoma and congenital central hypoventilation syndrome (CCHS). Germline mutations in PHOX2B, particularly polyalanine repeat expansions or frameshift variants, are causative in ~90% of CCHS cases, a disorder characterized by impaired autonomic control of breathing. In neuroblastoma, PHOX2B immunohistochemistry aids in diagnosing poorly differentiated tumors, as its nuclear staining is highly specific (∼95%) and sensitive (∼97%) for this malignancy. The antibody helps distinguish neuroblastoma from histological mimics and correlates with clinical subtypes, such as tumors associated with the *PHOX2B*-mutated Hirschsprung’s disease-CCHS-neuroblastoma triad.

Research applications include studying neural crest migration, autonomic dysfunction, and genetic pathways in neurocristopathies. The antibody’s utility in both diagnostic pathology and developmental biology underscores its importance in bridging basic science and clinical practice.