PHEX Antibody, FITC conjugated

Code CSB-PA017896LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) PHEX Polyclonal antibody
Uniprot No.
Target Names
Alternative Names
PHEX; PEX; Phosphate-regulating neutral endopeptidase PHEX; Metalloendopeptidase homolog PEX; Vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; HYP
Raised in
Species Reactivity
Recombinant Human Phosphate-regulating neutral endopeptidase protein (524-673AA)
Immunogen Species
Homo sapiens (Human)
Purification Method
>95%, Protein G purified
It differs from different batches. Please contact us to confirm it.
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Troubleshooting and FAQs
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

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.
Gene References into Functions
  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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Involvement in disease
Hypophosphatemic rickets, X-linked dominant (XLHR)
Subcellular Location
Cell membrane; Single-pass type II membrane protein.
Protein Families
Peptidase M13 family
Tissue Specificity
Specifically expressed in ovary. Expressed at low levels in kidney.
Database Links

HGNC: 8918

OMIM: 300550

KEGG: hsa:5251

STRING: 9606.ENSP00000368682

UniGene: Hs.495834

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