Phox2b (Paired-like Homeobox 2b, PHOX2B Homeodomain Protein, Neuroblastoma Paired-Type Homeobox Protein, Neuroblastoma Phox, NBPHOX, Paired Mesoderm Homeobox Protein 2B, PMX2B)

Phox2b is involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. It is a transcription factor which could determine a neurotransmitter phenotype in vertebrates. It 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.\n\nDefects 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.\n\nDefects in PHOX2B predispose to hereditary neuroblastoma (NB) [MIM:256700]. NB is a tumor of the sympathetic nervous system that account for about 10% of all cancers in childhood. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-derived cells-namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS).\n\nApplications: \nSuitable for use in ELISA. Other applications not tested.\n\nRecommended Dilution:\nELISA: 1:1000\nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20 degrees C. Aliquots are stable for at least 12 months at -20 degrees C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

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SPECIFICATIONS

Catalog Number

P4079-03C

Size

100ug

Applications

ELISA

Hosts

Goat

Reactivities

Hum

Form

Supplied as a liquid in Tris, pH 7.2, 0.5% BSA, 0.02% sodium azide.

P Type

Pab

Purity

Purified by affinity chromatography.

References

1. McGaughey DM, Vinton RM, Huynh J, Al-Saif A, Beer MA, McCallion AS. Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. Genome Res. 2008 Feb;18(2):252-60. Epub 2007 Dec 10. PMID: 18071029

Additional Info

Recognizes human Phox2b. Species sequence homology: mouse.