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.
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 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).
Applications:Suitable for use in ELISA.
Other applications not tested.
Recommended Dilution:ELISA: 1:1000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20°C.
Aliquots are stable for at least 12 months at -20°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.
仕様
Size：100ug
Host：goat
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by affinity chromatography.
Form：Supplied as a liquid in Tris, pH 7.2, 0.5% BSA, 0.02% sodium azide.
Specificity：Recognizes human Phox2b. Species sequence homology: mouse.
Isotype：IgG
Calc Applications Abbrev：E
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide with sequence C-SRDDESKEAKSTDP, from the internal region of human Phox2b (NP_003915.2).
