Epigenetics & Nuclear Signaling Antibodies 5
Anti-PHOX2B Antibody (CAB6816)
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- SKU:
- CAB6816
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Epigenetics and Nuclear Signaling
Description
| Antibody Name: | Anti-PHOX2B Antibody |
| Antibody SKU: | CAB6816 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | A synthesized peptide derived from human PHOX2B |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | SH-SY5Y, Neuro-2a |
| Immunogen: | A synthesized peptide derived from human PHOX2B |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 8929 |
| Uniprot: | Q99453 |
| Cellular Location: | |
| Calculated MW: | 35kDa |
| Observed MW: | 35KDa |
| Synonyms: | NBLST2, NBPhox, PMX2B |
| Background: | 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] |
| UniProt Protein Function: | PHOX2B: 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. Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS); 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. Defects in PHOX2B are the cause of susceptibility to neuroblastoma type 2 (NBLST2). A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Belongs to the paired homeobox family. |
| UniProt Protein Details: | Protein type:Transcription regulation; DNA-binding Chromosomal Location of Human Ortholog: 4p12 Cellular Component: nuclear chromatin Biological Process: autonomic nervous system development; cell differentiation in hindbrain; efferent axon development in a lateral line nerve; enteric nervous system development; glial cell differentiation; hindbrain tangential cell migration; inner ear development; neurological control of breathing; neuron migration; parasympathetic nervous system development; positive regulation of transcription from RNA polymerase II promoter; regulation of gene expression; rhombencephalic reticular formation development; sympathetic nervous system development Disease: Central Hypoventilation Syndrome, Congenital; Neuroblastoma, Susceptibility To, 2 |
| NCBI Summary: | 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] |
| UniProt Code: | Q99453 |
| NCBI GenInfo Identifier: | 116242712 |
| NCBI Gene ID: | 8929 |
| NCBI Accession: | Q99453.2 |
| UniProt Secondary Accession: | Q99453,Q6PJD9, |
| UniProt Related Accession: | Q99453 |
| Molecular Weight: | 31,621 Da |
| NCBI Full Name: | Paired mesoderm homeobox protein 2B |
| NCBI Synonym Full Names: | paired like homeobox 2b |
| NCBI Official Symbol: | PHOX2B |
| NCBI Official Synonym Symbols: | PMX2B; NBLST2; NBPhox |
| NCBI Protein Information: | paired mesoderm homeobox protein 2B |
| UniProt Protein Name: | Paired mesoderm homeobox protein 2B |
| UniProt Synonym Protein Names: | Neuroblastoma Phox; NBPhox; PHOX2B homeodomain protein; Paired-like homeobox 2B |
| Protein Family: | Paired mesoderm homeobox protein |
| UniProt Gene Name: | PHOX2B |
| UniProt Entry Name: | PHX2B_HUMAN |
 | Western blot - PHOX2B Rabbit mAb (CAB6816) |
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