phex phosphate regulating neutral endopeptidase

Summary

Summary: A membrane-bound metalloendopeptidase that may play a role in the degradation or activation of a variety of PEPTIDE HORMONES and INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS. Genetic mutations that result in loss of function of this protein are a cause of HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT.

Top Publications

  1. Deryugina E, Ratnikov B, Monosov E, Postnova T, DiScipio R, Smith J, et al. MT1-MMP initiates activation of pro-MMP-2 and integrin alphavbeta3 promotes maturation of MMP-2 in breast carcinoma cells. Exp Cell Res. 2001;263:209-23 pubmed
  2. Addison W, McKee M. ASARM mineralization hypothesis: a bridge to progress. J Bone Miner Res. 2010;25:1191-2 pubmed publisher
  3. Ran Q, Xiong F, Zhu M, Deng L, Lei P, Luo Y, et al. [Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. Zhongguo Dang Dai Er Ke Za Zhi. 2017;19:534-538 pubmed
    ..Their parents had normal gene phenotypes. c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH. ..
  4. Suarez Bregua P, Saxena A, Bronner M, Rotllant J. Targeted Pth4-expressing cell ablation impairs skeletal mineralization in zebrafish. PLoS ONE. 2017;12:e0186444 pubmed publisher
    ..Taken together, these results suggest that Pth4-expressing hypothalamic neurons participate in the regulation of bone metabolism, possibly through regulating phosphate balance during zebrafish development. ..