NCIt synonyms : Phosphate Regulating Gene with Homologies to Endopeptidases on the X Chromosome (Hypophosphatemia,
Vitamin D Resistant Rickets) Gene; Phosphate-Regulating Neutral Endopeptidase Gene; HYP1; Phosphate Regulating Endopeptidase Homolog X-Linked Gene; XLH; Phosphate-Regulating Endopeptidase, X-Linked Gene; LXHR; HPDR; Phosphate-Regulating Endopeptidase Homolog, X-Linked Gene; HPDR1; Phosphate Regulating Endopeptidase X-Linked wt Allele; HYP; PEX; PHEX Peptidase Gene;
NCIt definition : Human PHEX wild-type allele is located in the vicinity of Xp22.11 and is approximately
462 kb in length. This allele, which encodes phosphate-regulating neutral endopeptidase
PHEX protein, is involved in the cleavage of peptides that mediates osteogenic cell
differentiation, bone mineralization, dentin mineralization and renal phosphate reabsorption.
Mutations in the gene are associated with X-linked dominant hypophosphatemic rickets.;
OMIM relation