ITN1025
ITN1025
ITN1025
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- Catalog: ITN1025
- Gene/Protein: PHOX2B PMX2B
- Product Description: Immunotag™ PHX2B Polyclonal Antibody
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Description
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Specifications
Antibody Specification Datasheet 
IMPORTANT NOTE This product is custom manufactured with a lead time of 3-4 weeks. Once in production, this item cannot be cancelled from an order and is not eligible for return. Target Protein PHX2B Clonality Polyclonal Storage/Stability -20°C/1 year Application WB,ELISA Recommended Dilution WB 1:500-2000 ELISA 1:5000-20000 Concentration 1 mg/ml Reactive Species Human,Mouse Host Species Rabbit Immunogen Synthesized peptide derived from human protein . at AA range: 140-220 Specificity PHX2B Polyclonal Antibody detects endogenous levels of protein. Purification The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen Form Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. Gene Name PHOX2B PMX2B Accession No. Q99453 O35690 Description 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], Protein Expression Brain,Neuroblastoma, Subcellular Localization nuclear chromatin, Protein 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., Usage For Research Use Only! Not for diagnostic or therapeutic procedures. - Reviews
| Antibody Specification | |
| Datasheet | |
| IMPORTANT NOTE | This product is custom manufactured with a lead time of 3-4 weeks. Once in production, this item cannot be cancelled from an order and is not eligible for return. |
| Target Protein | PHX2B |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB,ELISA |
| Recommended Dilution | WB 1:500-2000 ELISA 1:5000-20000 |
| Concentration | 1 mg/ml |
| Reactive Species | Human,Mouse |
| Host Species | Rabbit |
| Immunogen | Synthesized peptide derived from human protein . at AA range: 140-220 |
| Specificity | PHX2B Polyclonal Antibody detects endogenous levels of protein. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. |
| Gene Name | PHOX2B PMX2B |
| Accession No. | Q99453 O35690 |
| Description | 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], |
| Protein Expression | Brain,Neuroblastoma, |
| Subcellular Localization | nuclear chromatin, |
| Protein 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., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |