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Description for Protein PHEX

phosphate regulating endopeptidase homolog, X-linked
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene 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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.24.-
    KEGG - Orthology:
    K08636
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Phoshphate regulating endopeptidase; Metalloendopeptidase homolog PEX; X-linked hypophosphatemia protein; HYP; Vitamin D resistant hypophosphatemic rickets protein; XLH; HPDR; HPDR1; HYP1; PEX; X-linked phosphate regulating endopeptidase homolog; EC 3.4.24.-; Phosphate regulating gene with homologies to endopeptidases on the X chromosome
    Approved Symbol:
    PHEX
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Hypophosphatemia, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02387 Entrez Gene ID: 5251 OMIM ID: 300550 Swissprot Accession: P78562;