Paired-like homeobox 2b protein (PHOX2B)

Paired-like homeobox 2b protein (PHOX2B) is a homeodomain transcription factor encoded by the PHOX2B gene located on human chromosome 4. It plays a critical role in the development and differentiation of neurons derived from the neural crest, particularly those forming the autonomic nervous system, which governs vital functions such as breathing, cardiovascular regulation, and digestion. PHOX2B is essential for the proper formation, differentiation, and survival of sympathetic neurons and chromaffin cells. Mutations in PHOX2B cause congenital central hypoventilation syndrome, Hirschsprung disease, and contribute to increased risk for neuroblastoma. PHOX2B is a highly specific marker for neural crest derivation and, especially through immunohistochemistry, is important for the diagnosis of neuroblastoma and related tumors[1][2][3][4][5][6][10]. Key mutations, especially polyalanine repeat expansions, have strong diagnostic and prognostic significance; their detection is crucial for patient management in relevant congenital and neoplastic disorders[1][3][5]. There are no approved drugs specifically targeting PHOX2B, and its therapeutic target status is currently limited to its use as a diagnostic and prognostic molecular marker.

Other names

Neuroblastoma PhoxNBPhoxPHOX2B protein