Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4. [5] It codes for a homeodomain transcription factor.

The PHOX2B gene provides instructions for making a protein that is important during development before birth. The PHOX2B protein helps support the formation of nerve cells (neurons) and regulates the process by which the neurons …

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control due to a mutation in the paired-like homeobox 2B (PHOX2B) gene found on chromosome 4. 1 CCHS patients usually present in the newborn period with apnea, hypoxemia, and hypoventilation that are most severe dur...

Mar 30, 2025 · PHOX2B (Paired Like Homeobox 2B) is a Protein Coding gene. Diseases associated with PHOX2B include Central Hypoventilation Syndrome, Congenital, 1 and Neuroblastoma 2. Among its related pathways are Sudden infant death syndrome (SIDS) susceptibility pathways and Neural crest differentiation.

PHOX2B is a highly sensitive and specific immunohistochemical marker for peripheral neuroblastic tumours, including neuroblastoma.

Genetic testing of PHOX2B will detect a mutation in >99% of people with CCHS (clinical sensitivity). Ambry's PHOX2B analysis can detect >99.9% of described mutations in the gene, when present (analytical sensitivity).

PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumours; however, no systematic evaluation of central nervous system (CNS) embryonal tumours was included in the studies.

Central hypoventilation syndrome is an autosomal dominant disorder that is characterized by shallow breathing with occasional apnea. Age of onset is typically in the newborn period, and the features are due to autonomic dysregulation.

More than 75 mutations in the PHOX2B gene have been found to cause congenital central hypoventilation syndrome (CCHS). This condition is characterized by shallow breathing (hypoventilation), especially during sleep, that typically begins in infancy.

The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndrome (CCHS). Individuals with CCHS typically present in the newborn period with alveolar hypoventilation during sleep and often during ...