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PHEX Antibody

  • 货号：
    CSB-PA017896LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunofluorescence staining of HepG2 cells with CSB-PA017896LA01HU at 1:133, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) PHEX Polyclonal antibody
  • Uniprot No.：
    P78562
  • 基因名：
    PHEX
  • 别名：
    PHEX; PEX; Phosphate-regulating neutral endopeptidase PHEX; Metalloendopeptidase homolog PEX; Vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; HYP
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Phosphate-regulating neutral endopeptidase protein (524-673AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，PHEX Antibody (CSB-PA017896LA01HU)，的标记方式是Non-conjugated。对于PHEX Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA017896LB01HU PHEX Antibody, HRP conjugated ELISA
    FITC CSB-PA017896LC01HU PHEX Antibody, FITC conjugated
    Biotin CSB-PA017896LD01HU PHEX Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IF 1:50-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity. Cleaves ASARM peptides between Ser and Glu or Asp residues. Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide. Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides. Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation.
  • 基因功能参考文献：
    1. Nonsense mutation (p.E145*) in PHEX is involved in X-linked dominant hypophosphatemic rickets. PMID: 29858904
    2. Two novel variants of the PHEX gene were identified in two unrelated families with Xlinked dominant hypophosphatemic rickets by directly sequencing all 22 exon regions and intron/exon boundaries of the PHEX gene. PMID: 29393334
    3. genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3 PMID: 29505567
    4. PHEX mutations are still the most common genetic defects in the Turkish population and were found in 12 of 14 patients with hypophosphataemic rickets PMID: 28383812
    5. dentification of the PHEX mutation by whole exome sequencing has facilitated genetic counseling and prenatal diagnosis for the family affected with hypophosphatemic rickets PMID: 28981921
    6. Expression and inactivation of osteopontin-degrading PHEX enzyme in squamous cell carcinoma PMID: 27270332
    7. The novel splicing mutation IVS21+2T>G of the PHEX geneis associated with X-linked hypophosphatemia. PMID: 28397222
    8. c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of X-linked hypophosphatemic rickets PMID: 28506344
    9. Herpes simplex virus 1 blocks MAVS-Pex mediated early interferon-stimulated gene activation through VP16 to dampen the immediate early antiviral innate immunity signaling from peroxisomes. PMID: 28222744
    10. Mutation in the PHEX gene is associated with type 1 diabetes. PMID: 26894575
    11. the findings of this study provide new insight into the spectrum of PHEX mutations and provide potential evidence of a critical domain in PHEX protein. PMID: 27840894
    12. This report that mutations in PHEX are the most frequent cause of hypophosphatemic rickets PMID: 26051471
    13. Downregulation of PHEX may constitute an important early component of bone loss and joint damage in leprosy PMID: 26362198
    14. A new splice acceptor mutation was seen in intron 9 (c.1080-3C>A) in a family with hypophosphatemic rickets. This transcript skipped exons 10-14. A sporadic case had a new exon 11 mutation (c.1211_1215delACAAAinsTTTACAT, p.Asp404Valfs*5, de novo). PMID: 26107949
    15. Two novel mutations were detected unrelated families with hypophosphatemic rickets. PMID: 24836714
    16. PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR. PMID: 25042154
    17. A novel de novo nonsense mutation of the PHEX gene has been identified in Chinese family expanding the mutation spectrum of PHEX leading to X-linked hypophosphatemic rickets. PMID: 25839938
    18. exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese X-link dominate hypophosphatemic rickets (XLH) patients PMID: 24857004
    19. 15 PHEX mutations have been reported in Chinese populations with X-linked hypophosphatemic rickets PMID: 23813354
    20. The c.732+1G>T mutation of PHEX is associated with hypophosphatasia pedigree. PMID: 24078575
    21. study shows that PHEX mutation is a common cause of either familial or sporadic hypophosphatemic rickets in Turkish population PMID: 23079138
    22. Mutations in PHEX and DMP1 play a role in causing hypophosphatemic rickets. PMID: 22695891
    23. PHEX gene mutations were responsible for X-linked hypophosphatemia in these Chinese families. PMID: 22713460
    24. Analysis of PHEX mRNA from peripheral blood would be appropriate for the first screening step in determining the etiology of FGF23-related hypophosphatemic rickets. PMID: 22577109
    25. PTHrP(1-34)-mediated repression of the PHEX gene in osteoblastic cells involves the transcriptional repressor E4BP4. PMID: 21826652
    26. Hypophosphatemic rickets (HR) is a rare hereditary disease in which dental problems in terms of spontaneous periapical infections are frequently reported PMID: 21902707
    27. tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type in X-linked dominant Hypophosphatemic Rickets PMID: 21902834
    28. Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens. PMID: 21553362
    29. Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability. PMID: 21293852
    30. Data show the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets. PMID: 21050253
    31. M. leprae is capable of inhibiting PHEX expression in osteoblasts in a very similar manner as that observed in Schwann cells, indicating that the bacillus modulates PHEX in both osteogenic and non-osteogenic cells. PMID: 20835608
    32. Case Report: describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu(96)X (c.286G>T) causing X linked hypophosphatemic rickets in a mother and daughter of Indian ancestry. PMID: 20664300
    33. Cooperative role of NF-{kappa}B and poly(ADP-ribose) polymerase 1 (PARP-1) in the TNF-induced inhibition of PHEX expression in osteoblasts. PMID: 20817730
    34. fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein sequences are potential PHEX substrates PMID: 12678920
    35. There is evidence for a hormone/enzyme/extracellular matrix protein cascade involving fibroblastic growth factor 23 (FGF23), a phosphate-regulating gene with homologies to (PHEX) and (MEPE)--REVIEW PMID: 12791601
    36. regulates fgf23 expression as part of a potential hormonal axis between bone and kidney that controls systemic phosphate homeostasis and mineralization PMID: 12874285
    37. Anthropometric characteristics arising from mutations of PHEX were evaluated. PMID: 15057978
    38. a cis-element is required for PHEX gene transcription that participates in negative feedback control of PHEX expression and thereby modulates the actions of phosphatonin PMID: 15337762
    39. In our present study, we found that suppression of PHEX expression by PHEX antisense in human osteoblast cells caused an increase in cathepsin D expression at protein, but not mRNA, levels. PMID: 15896324
    40. Overexpression of human PHEX under the human beta-actin promoter in hypophosphatemia mice rescued the bone phenotype almost completely, but did not affect phosphate homeostasis. PMID: 15940367
    41. seven PHEX mutations were detected in X-linked hypophosphatemic rickets patients: two missense mutations, two nonsense mutations, and three short deletions; no functional FGF23 mutation was detected in any patient PMID: 16055933
    42. XLH is caused by mutations in the PHEX (phosphate regulating gene with homology to endopeptidases) gene, which is located on Xp22.1. PMID: 16437029
    43. Our data support previous findings and therefore contribute to the decipherment of the pathogenetic pathways of XLH. PMID: 17406123
    44. The results suggest that PHEX gene mutations were responsible for XLH in these patients and these mutations may contribute to a higher serum fibroblast growth factor 23 level. PMID: 18046499
    45. Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons. PMID: 18162710
    46. These data provide evidence that aberrant Phex function in osteoblasts and/or osteocytes alone is sufficient to underlie the hyp-mouse phenotype. PMID: 18172553
    47. mRNA of PHEX involved in the pathogenesis of hypophosphataemic rickets is highly expressed in cells of the osteoblasts/osteocyte lineage. PMID: 18214537
    48. Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. PMID: 18252791
    49. U(2)OS cells transfected with wild-type TNAP and polymorphism TNAP cDNA showed PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) induction as in SaOS-2 cells. PMID: 18455459
    50. Data indicate that there is no single predominant PHEX mutation responsible for X-linked hypophosphatemic rickets. PMID: 18625346

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  • 相关疾病：
    Hypophosphatemic rickets, X-linked dominant (XLHR)
  • 亚细胞定位：
    Cell membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Peptidase M13 family
  • 组织特异性：
    Specifically expressed in ovary. Expressed at low levels in kidney.
  • 数据库链接：

    HGNC: 8918

    OMIM: 300550

    KEGG: hsa:5251

    STRING: 9606.ENSP00000368682

    UniGene: Hs.495834