PHOX2B Antibody #83811

PHOX2B (also called neuroblastoma PHOX, NBPhox) is a homeodomain transcription factor expressed primarily in neuronal cells of the peripheral autonomic nervous system (1). Research studies in animal models have shown that PHOX2B expression is specifically required for the generation and maintenance of neuroblasts derived from the neural crest (2). PHOX2B expression has likewise been identified as a sensitive and specific marker of undifferentiated neuroblastoma tumors, including metastatic neuroblastoma cells in bone marrow (3-5). Specific mutations in the gene encoding PHOX2B have been directly linked with familial neuroblastoma cases (6) in addition to autonomic nerve disorders that can co-occur with neuroblastoma (e.g., Hirschsprung's disease, congenital central hypoventilation syndrome) (7). These findings underscore the central importance of PHOX2B to development and function of the peripheral autonomic nervous system.