The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000 - 1/2000. Detects a band of approximately 35 kDa (predicted molecular weight: 32 kDa).
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.
Expressed in neuroblastoma, brain and adrenal gland.
Involvement in disease
Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. Most mutations consist of 5-10 alanine expansions in the poly-Ala region from amino acids 241-260. CCHS is 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. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases. Defects in PHOX2B are the cause of susceptibility to neuroblastoma type 2 (NBLST2) [MIM:613013]. 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.
Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain.
Immunofluorescence analysis of acetone-fixed HeLa cells labeling PHOX2B with ab183741 at 1/100 dilution (red). Goat anti-rabbit IgG (Alexa Fluor® 555) at 1/200 dilution was used as the secondary antibody. The slide on the right is stained with Dapi (blue).
Immunofluorescence analysis of 4% paraformaldehyde-fixed SH-SY5Y cells labeling PHOX2B with ab183741 at 1/100 dilution (red). Goat anti-rabbit IgG (Alexa Fluor® 555) at 1/200 dilution was used as the secondary antibody. The slide on the right is stained with Dapi (blue).
Bouilloux F et al. Loss of the transcription factor Meis1 prevents sympathetic neurons target-field innervation and increases susceptibility to sudden cardiac death. Elife5:N/A (2016).
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