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FLASH GENE
Symbol PHEX contributors: mct/npt - updated : 24-02-2015
HGNC name phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets)
HGNC id 8918
Corresponding disease
HYP1 hypophosphatemic, rickets, dominant
Location Xp22.11      Physical location : 22.050.920 - 22.266.476
Synonym name
  • phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
  • metalloendopeptidase homolog PEX
  • vitamin D-resistant hypophosphatemic rickets protein
  • X-linked phosphate regulating endopeptidase homolog
  • Synonym symbol(s) HPDR1, HYP, PEX, PEK, HYP1, XLH
    EC.number 3.4.24.-
    DNA
    TYPE functioning gene
    STRUCTURE 215.56 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 2861 86.5 749 - Makras (2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Reproductivefemale systemovary   
     male systemprostate   
    Respiratoryrespiratory tracttrachea   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  predominantly
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveodontoblast
    Skeletonosteoblast Homo sapiens
    cell lineage osteoblasts and odontoblasts
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text liver, lymphocytes, brain, placenta, lung
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal cytoplasmic region
  • a transmembrane domain with a conserved pentapeptide zinc-binding motif (HEXXH)
  • a second zinc binding motif
  • ten cysteine residues
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Phex
    intraspecies homolog to M13 zinc metallopeptidase
    Homologene
    FAMILY
  • neutral endopeptidase family (zinc metallopeptidase)
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type II membrane protein
    basic FUNCTION
  • phosphate regulating gene on chromosome X
  • degradating FGF23, then enhancing renal phosphate transport for osteoblastic activity
  • involved in bone and dentin mineralization and renal phosphate reabsorption (glycosylation and transmembrane localization necessary to the function)
  • involved in the clearance of the phosphatonin
  • zinc endopeptidase expressed in osteoblasts and contributing to bone mineralization
  • PHEX and DMP1 control a common pathway regulating bone mineralization and FGF23 production, the latter involving activation of the FGFR signaling in osteocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS ossification
    text involved in bone and dentin mineralization and renal phosphate reabsorption
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    repressed by NFKB and PARP1 (NF-KB signaling and PARP1 enzymatic activity cooperatively contribute to the constitutive and inducible suppression of PHEX)
    ASSOCIATED DISORDERS
    corresponding disease(s) HYP1
    related resource PHEX Locus database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    leads to increased serum levels of FGF23, a phosphaturic hormone that induces excessive renal phosphate excretion and severe hypophosphatemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS