BD-PN1025

PHX2B Rabbit Polyclonal Antibody

常规抗体

PHOX2B PMX2B

Paired mesoderm homeobox protein 2B (Neuroblastoma Phox) (NBPhox) (PHOX2B homeodomain protein) (Paired-like homeobox 2B)

WB

Human,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

8929

Q99453

https://www.uniprot.org/uniprotkb/Q99453/entry

O35690

http://www.uniprot.org/uniprot/O35690

Synthesized peptide derived from human protein . at AA range: 140-220

PHX2B Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

34kD

-20°C/1 year

Polyclonal, Rabbit,IgG

paired like homeobox 2b(PHOX2B) Homo sapiens The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016],

Expressed in neuroblastoma, brain and adrenal gland.

Nucleus .

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.,disease: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).,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.,similarity:Belongs to the paired homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Expressed in neuroblastoma, brain and adrenal gland.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.