Product Description

PHX2B Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES9971-50, ES9971-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

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],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB, ELISA

Clonality: Polyclonal

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

Isotype: IgG

Target: PHX2B

Specificity: PHX2B Polyclonal Antibody detects endogenous levels of protein.

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

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

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Expression: Expressed in neuroblastoma, brain and adrenal gland,

Observed Band (KD): 34kD

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. Ger

Subcellular Location: Nucleus

Storage and Stability: -20°C/1 year

Gene Name: PHOX2B PMX2B

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

Mouse SwissProt Number: O35690

Research Use Only