Name: U-Blot® PHX2B Rabbit mAb
SKU: WR6070
Price: 268 USD
Availability: InStock

Product details

Background：
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] ,

Specifications

Size	50μL/100μL
Target	PHX2B
Reactivity	Human, Mouse
Applications	WB, IHC, IF, ELISA
MW(Calculated)	32kD
MW(Observed)	37kD
Host Species	Rabbit
Isotype	IgG, Kappa
Conjugate/Modification	Unmodified
Recommended Dilution Ratio	IHC 1:200-1:1000; WB 1:5000-1:20000; IF 1:200-1:1000; ELISA 1:5000-1:20000 / Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0 (Cat#WT1004)
Formulation	PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
Purification	Recombinant Antibody expressed in animal component-free (ACF) media, purified via Protein A affinity chromatography.
Storage	-15°C to -25°C/1 year (Do not lower than -25°C)
Concentration
Clonality	Monoclonal
Clone Number	RM1989R
Immunogen	The specific immunogen used to produce this antibody is proprietary information.
Specificity	Endogenous
Gene Name	PHOX2B PMX2B
Protein Name	Paired mesoderm homeobox protein 2B (Neuroblastoma Phox) (NBPhox) (PHOX2B homeodomain protein) (Paired-like homeobox 2B)
Other Name
Species	Human
Gene ID	8929
Uniprot	Q99453,
Species.1	Mouse
Gene ID.1
Uniprot.1	O35690
Species.2
Gene ID.2
Uniprot.2
Cellular Localization	Nucleus .
Tissue Expression	Expressed in neuroblastoma , brain and adrenal gland.
Signaling_pathway
Research Areas
Function	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. ,