Name: Rabbit anti-human PHOX2B Monoclonal Antibody (Clone EP312)
Description and aplications: The PHOX2B gene (also known as PMX2B or NBPHOX) is located in the chromosome region 4p13 and encodes a nuclear transcription factor that, during the embryonic development, predominantly expresses in the autonomic nervous system, being essential in the differentiation and survival of vegetative neurons and chromaffin cells. Mutations of the PHOX2B gene are responsible for the central hypoventilation syndrome, a syndrome with autosomal dominant transmission in which the hypoventilation is secondary to the reduction or absence of ventilatory response to hypercapnia or progressive hypoxemia and, as a consequence, new born die during sleep. By definition, there must not be specific neuromuscular diseases of the central nervous system; metabolic, lung, heart diseases or other lesions that explain hypercapnia. This syndrome is associated with tumors of neural crest origin, including neuroblastoma, as well as Hirschsprung’s disease because of the lack of development of the vegetative neurons of the myenteric plexuses.
Composition: Anti-human PHOX2B rabbit monoclonal antibody purified from culture supernatant, filtered, sterilized
and prepared in 10mM PBS, pH 7.4, with 0.2% BSA and 0.09% sodium azide
Immunogen: Synthetic peptide corresponding to the human PHOX2B.
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