PHOX2B
Function
Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.
Involvement in disease
Central hypoventilation syndrome, congenital, 1
CCHS1
An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Neuroblastoma 2
NBLST2
A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the paired homeobox family.
Tissue Specificity
Expressed in neuroblastoma, brain and adrenal gland.
Cellular localization
- Nucleus
Alternative names
PMX2B, PHOX2B, Paired mesoderm homeobox protein 2B, Neuroblastoma Phox, PHOX2B homeodomain protein, Paired-like homeobox 2B, NBPhox