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Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX)

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HYP; HPDR; PEX; HPDR1; HYP1; XLH; Metalloendopeptidase homolog PEX; Vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein

Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX)
CCC P800
HGNC 8918
MGI 107489
PubMed 22695891
RGD 3323
UniProt P78562
Wiki PHEX
PHEX is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets.
The PHEX protein is predicted to have a 20-residue N-terminal cytoplasmic tail, a 27-residue transmembrane domain, and a 702-residue extracellular C-terminal region. The protein belongs to the type II integral membrane zinc-dependent endopeptidase family. PHEX transcripts were identified in human osteosarcoma-derived cells and in differentiated mouse osteoblasts, but not in immature mouse preosteoblasts, indicating stage-specific expression.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) ELISA Kit Customized Service Offer
  1. "Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets."Genome Res. 7:573-585(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice."J. Clin. Invest. 99:1200-1209(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts."J. Bone Miner. Res. 12:1009-1017(1997) [PubMed] [Europe PMC] [Abstract]
  4. "Expression and cloning of the human X-linked hypophosphatemia gene cDNA."Biochem. Biophys. Res. Commun. 231:635-639(1997) [PubMed] [Europe PMC] [Abstract]
  5. "Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets."Am. J. Hum. Genet. 60:790-797(1997) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets." Nat. Genet. 11:130-136(1995) [PubMed] [Europe PMC] [Abstract]
  9. "Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)." Hum. Mol. Genet. 6:539-549(1997) [PubMed] [Europe PMC] [Abstract]
  10. "A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets."J. Clin. Endocrinol. Metab. 83:3459-3462(1998) [PubMed] [Europe PMC] [Abstract]
  11. "Mutational analysis of PHEX gene in X-linked hypophosphatemia."J. Clin. Endocrinol. Metab. 83:3615-3623(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues."Eur. J. Hum. Genet. 7:615-619(1999) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets."Hum. Mutat. 15:383-384(2000) [PubMed] [Europe PMC] [Abstract]
  14. "Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets."Pediatr. Res. 48:536-540(2000) [PubMed] [Europe PMC] [Abstract]