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  4. Recombinant Human Paired mesoderm homeobox protein 2B (PHOX2B)

Recombinant Human Paired mesoderm homeobox protein 2B (PHOX2B)

  • 中文名称：
    人PHOX2B重组蛋白
  • 货号：
    CSB-YP859099HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人PHOX2B重组蛋白
  • 货号：
    CSB-EP859099HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人PHOX2B重组蛋白
  • 货号：
    CSB-EP859099HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人PHOX2B重组蛋白
  • 货号：
    CSB-BP859099HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人PHOX2B重组蛋白
  • 货号：
    CSB-MP859099HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    PHOX2B
  • Uniprot No.：
  • 别名：
    NBLST2; NBPhox; Neuroblastoma paired type homeobox protein; Neuroblastoma Phox; Paired like homeobox 2b; Paired mesoderm homeobox 2b; Paired mesoderm homeobox protein 2B; Paired-like homeobox 2B; PHOX 2B; PHOX 2B homeodomain protein; PHOX2B; PHOX2B homeodomain protein; PHX2B_HUMAN; PMX 2B ; PMX2B
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-314
  • 氨基酸序列
    MYKMEYSYLN SSAYESCMAG MDTSSLASAY ADFSSCSQAS GFQYNPIRTT FGATSGCPSL TPGSCSLGTL RDHQSSPYAA VPYKLFTDHG GLNEKRKQRR IRTTFTSAQL KELERVFAET HYPDIYTREE LALKIDLTEA RVQVWFQNRR AKFRKQERAA AAAAAAAKNG SSGKKSDSSR DDESKEAKST DPDSTGGPGP NPNPTPSCGA NGGGGGGPSP AGAPGAAGPG GPGGEPGKGG AAAAAAAAAA AAAAAAAAAA GGLAAAGGPG QGWAPGPGPI TSIPDSLGGP FASVLSSLQR PNGAKAALVK SSMF
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    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.
  • 基因功能参考文献：
    1. in vitro transactivation of the RET promoter by different Hirschsprung disease-associated PHOX2B polyA variants has resulted significantly lower compared to the effect of PHOX2B wild type protein. PMID: 28433712
    2. The primary cause of Congenital central hypoventilation syndrome is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients. PMID: 29249648
    3. PHOX2B is a highly sensitive and specific immunohistochemical marker for peripheral neuroblastic tumours, including neuroblastoma. PMID: 28640941
    4. The s found frequent, weak to moderate PHOX2B expression in phaeochromocytomas/paragangliomas and no expression in well-differentiated neuroendocrine tumours (WDNETs), which could be diagnostically useful in the distinction of these tumours. PMID: 28464318
    5. PHOX2B gene mutation results in a cytosine to thymine substitution changing the amino acid at codon 82 from proline to leucine. PMID: 28633714
    6. The discovery of gain-of-function mutations in the ALK receptor tyrosine kinase gene as the major cause of familial neuroblastoma led to the discovery of identical somatic mutations and rapid advancement of ALK as a tractable therapeutic target. Inactivating mutations in a master regulator of neural crest development, PHOX2B, have also been identified in a subset of familial neuroblastomas. PMID: 28458126
    7. Given the association between congenital heart disease and aberrant neural crest cell development, however, findings are suggestive that congenital heart disease may be a rare feature of PHOX2B mutation which has not been previously reported PMID: 28422456
    8. This study is the first to evaluate minimal residual disease detection using neuroblastoma mRNAs in human ovarian tissue. Only PHOX2B was a reliable marker of neuroblastoma cells contaminating ovarian tissue. PMID: 27734578
    9. This truncated protein localized to the nucleus and transactivated a target promoter. These data suggest that nonsense pathogenic variants in the first exon of PHOX2B likely escape nonsense mediated decay (NMD) and produce N-terminally truncated proteins functionally distinct from those produced by the more common polyalanine repeat mutations (PARMs). PMID: 28371199
    10. These pre-clinical data strongly suggest that PHOX2B functions as a suppressor of neuroblastoma progression. PMID: 26840262
    11. High PHOX2B expression is associated with Neuroblastoma. PMID: 26910576
    12. PHOX2B forms homodimers and heterodimerizes weakly with mutated proteins, excluding the direct involvement of the polyalanine tract in dimer formation, indicating that mutated proteins retain partial ability to form heterodimers with PHOX2A. PMID: 27129232
    13. Expression of NOX4/p22(phox) as well as ROS production is enhanced by IL-1beta. On the other hand, the use of NOX4 inhibitors decreased IL-1beta-induced collagenase synthesis by chondrocytes. PMID: 26521743
    14. PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation. PMID: 26902400
    15. Point "silent" mutations affecting different nucleotides of the PHOX2B gene were observed in 32 % of patients with Class III malocclusion and never in controls (0 %). PMID: 23536260
    16. Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT), frequently in association with other neurocristopathies. PMID: 26375764
    17. Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support to infant diagnosed with congenital central hypoventilation syndrome and PHOX2B mutations. PMID: 26063465
    18. Results indicate that early-onset mutant PHOX2B expression inhibits locus coeruleus neuronal development in congenital central hypoventilation syndrome PMID: 25975378
    19. We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. PMID: 24799442
    20. CCHS was confirmed genetically (heterozygous insertion of an adenine at position 23, leading to a premature stop codon in exon 1 of the PHOX2B gene. PMID: 24792884
    21. Post-transcriptional down-regulation of the PHOX2B gene takes place in NB cell lines and miRNA-204 participates in such a 3'UTR mediated control. PMID: 26145533
    22. In this series, we observed high morbidity and poor functional outcome, which should be anticipated in TCA. Patients with TCA have a high probability of requiring a long-term stoma and this should be considered as a management option. PMID: 24347288
    23. The paired-like homeobox 2B (Phox2b) gene is a transcription factor which is crucial to the development of autonomic nervous system reflex pathways. PMID: 25319843
    24. Data indicate that transcription factor PHOX2B is specific for neuroblastoma (NB) in its differential diagnosis with other small round cell tumors. PMID: 25822764
    25. Of all DNA variants considered, only the length variation of the polyalanine repeat in exon 3 of the PHOX2B gene was found to be statistically significantly associated with SIDS in the Dutch population. PMID: 24442913
    26. The effects of five polymorphisms of RET (rs1800858, rs1800860, rs1800861, rs10900297, rs2435357) and one polymorphism (rs28647582) of PHOX2B Hirschsprung's disease in were evaluated. PMID: 24651702
    27. Absence of PHOX2B polyalanine repeat expansion alleles or point mutations in 68 Australian cases of sudden unexpected death in epilepsy (SUDEP) shows that PHOX2B mutations are not a common risk factor for SUDEP PMID: 25085640
    28. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations of congenital central hypoventilation syndrome were found across three generations in one family. PMID: 23460419
    29. PHOX2B gene expression in the bone marrow before ASC harvesting led to significant decrease in disease-free and overall survival. PMID: 24919263
    30. Congenital central hypoventilation syndrome (CCHS) is characterized by a failure of the automatic control of breathing during sleep, and is caused by the dominant PHOX2B mutation. PMID: 24605541
    31. Congenital central hypoventilation syndrome was diagnosed in a neonate with alveolar hypoventilation, hypoglycemia, and hypoinsulinism due to a mutation of the PHOX2B gene, confirmed by direct sequencing. PMID: 23231723
    32. Report utility of phox2b as an immunohistochemical marker for tumors of the autonomic nervous system. PMID: 23715162
    33. Results support that PHOX2B loss-of-function is a rare cause of HSCR phenotype. PMID: 23342068
    34. The results of this study provide novel in vitro experimental evidence of a transcriptional dominant-negative effect of PHOX2B polyalanine mutant proteins on wild-type protein on two different PHOX2B target genes. PMID: 23103552
    35. A new heterozygote mutation of exan 3 with duplication of 15 base pairs due to expansion of 5 alanines (genotype 20/25). PMID: 23037578
    36. testing for PHOX2B mutation can assist iq the diagnosis of congenital central hypoventilation syndrome and in the prediction of disease progression. PMID: 23427517
    37. The findings for HOXB5 and PHOX2B provide supportive evidence that genes regulating ENCC proliferation, migration and differentiation could be risk factors for Hirschsprung's disease PMID: 22648184
    38. Study shows that the E3 ubiquitin ligase TRIM11 plays a critical role in the clearance of mutant PHOX2B, which causes congenital central hypoventilation syndrome, through the proteasome. PMID: 22307522
    39. report describes a family with recurrence of PHOX2B mutation-confirmed congenital central hypoventilation syndrome due to germline mosaicism PMID: 22821709
    40. Nearly 25% of congenital central hypoventilation syndrome patients carrying polyalanine expansion mutation inherit the PHOX2B mutation from parents with somatic mosaicism or constitutive mutation. PMID: 22437207
    41. monoaminergic signaling pathways may play a central role in regulating amygdala activity.Candidate gene studies indicate that differences in amygdala activity may be caused by genetic variants within monoaminergic signaling pathways PMID: 22856363
    42. PHOX2B, FGF12 and GAD2 genes are hypermethylated in colorectal neoplastic tissue PMID: 22552777
    43. Patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles. PMID: 22170461
    44. Review of the role of paired-like homeobox 2B (PHOX2B) genetic mutations in congenital central hypoventilation syndrome. PMID: 22052119
    45. PHOX2B exon or whole gene deletion should be considered as another mechanism of disease which may include congenital central hypoventilation syndrome, Hirschsprung disease, and/or tumors of neural crest origin. PMID: 21830319
    46. 20/24 repeats and 20/27 repeats in PHOX2B gene of two unrelated Korean patients with Ondine-Hirschsprung disease PMID: 21373876
    47. We present four families, three with autosomal dominant inheritance and familial clustering, and one with a de novo mutation resulting in CCHS. PMID: 21076974
    48. This syndrome may also be associated with generalised dysfunction of the autonomic nervous system and a sub-group with associated Hirschsprung's disease. The genetic basis of CCHS has been identified as mutations in the PHOX2B gene. PMID: 21088916
    49. Conserved Phox2B and E-box binding sites are necessary for proper cis-regulatory element activity during sympathetic neurogenesis. PMID: 22323723
    50. The PHOX2B can induce desired neuronal lineages from most expressing neural progenitor cells by a mechanism resembling developmental binary cell-fate switching. PMID: 21624811

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  • 相关疾病：
    Congenital central hypoventilation syndrome (CCHS); Neuroblastoma 2 (NBLST2)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Paired homeobox family
  • 组织特异性：
    Expressed in neuroblastoma, brain and adrenal gland.
  • 数据库链接：

    HGNC: 9143

    OMIM: 209880

    KEGG: hsa:8929

    STRING: 9606.ENSP00000226382

    UniGene: Hs.87202